JNS-cover.jpgJournal of Neurological Sciences

Vol 362 | 15 March 2016 | Pages 1-348


Lumbar decompression for dorsiflexion palsy

Vivek P. Buch, Ali K. Ozturk

Lumbar stenosis is one of the most common degenerative conditions affecting the general population. There can be differing symptoms based on the location of stenosis. Central stenosis will most commonly present with neurogenic claudication, which is primarily characterized by bilateral lower extremity pain and "heaviness" exacerbated by walking and relieved with rest [1]. In pure central stenosis, neurogenic claudication symptoms improve by performing decompression without foraminotomy [2]. Lateral recess or foraminal stenosis by contrast tends to be more specific in the distribution of symptoms; typically following particular dermatomes to create radicular pain, paresthesia, and numbness.


Review Articles

CSF tap test — Obsolete or appropriate test for predicting shunt responsiveness? A systemic review

Mario Mihalj, Krešimir Dolić, Krešimir Kolić, Vlatko Ledenko

There is no accurate test for diagnosing normal pressure hydrocephalus or for screening for patients who will benefit from shunt surgery. Additional tests, such as cerebrospinal fluid tap test (CSF-TT), are often used in practice to provide further predictive value in detecting suitable patients for shunting. We performed a systematic review of the literature to evaluate the CSF-TT's effect on the outcome of main symptoms and on validity parameters in screening patients suitable for shunting.

Septic cerebral venous sinus thrombosis

Ismail A. Khatri, Mohammad Wasay

Septic cerebral venous sinus thrombosis, once a common and deadly disease, has fortunately become rare now. Not only that the incidence has fallen significantly after the antibiotic era, the morbidity and mortality has also decreased substantially. Cavernous sinus thrombosis is by far the commonest form of septic cerebral venous sinus thrombosis. Due to its rare occurrence, a lot of current generation clinicians have not encountered the entity in person. Despite all the advances in diagnostic modalities, a high index of clinical suspicion remains the mainstay in prompt diagnosis and management of this potentially lethal condition.


Basic Research Papers

Longitudinal relationship between chronic kidney disease and distribution of cerebral microbleeds in patients with ischemic stroke

Qing Peng, Wei Sun, Wenhong Liu, Ran Liu, Yining Huang, the CASISP Study Group

Chronic kidney disease (CKD) has been reported to be independently associated with cerebral microbleeds (CMB). Since both glomerular afferent arterioles and cerebral perforating arteries are strain vessels, CKD and CMB may share similar dynamic changes.

Longitudinal course of mild parkinsonian signs in elderly people: A population-based study in Japan

Kenji Wada-Isoe, Kenichiro Tanaka, Yusuke Uemura, Satoko Nakashita, Yuki Tajiri, Shugo Tagashira, Mikie Yamamoto, Mika Yamawaki, Masafumi Kishi, Kenji Nakashima

We aimed to clarify the longitudinal course of mild parkinsonian signs (MPS) and their association with dementia and functional disability by conducting a comprehensive epidemiological study, including brain MRI, and assessments of cognition, depression, and sleep, in people aged ≥ 65 years living in Ama-cho. We diagnosed MPS and parkinsonism (PS) using a modified Unified Parkinson's Disease Rating Scale. The phase I study was conducted between 2008 and 2010 (n = 729) and the phase II between 2011 and 2013 (n = 436).

Sensorimotor modulation by botulinum toxin A in post-stroke arm spasticity: Passive hand movement

Tomáš Veverka, Petr Hluštík, Pavel Hok, Pavel Otruba, Jana Zapletalová, Zbyněk Tüdös, Alois Krobot, Petr Kaňovský

In post-stroke spasticity, functional imaging may uncover modulation in the central sensorimotor networks associated with botulinum toxin type A (BoNT) therapy. Investigations were performed to localize brain activation changes in stroke patients treated with BoNT for upper limb spasticity using functional magnetic resonance imaging (fMRI).

The melanocortin ACTH 1-39 promotes protection of oligodendrocytes by astroglia

Robert P. Lisak, Liljana Nedelkoska, Joyce A. Benjamins

Damage to myelin and oligodendroglia (OL) in multiple sclerosis (MS) results from a wide array of mechanisms including excitotoxicity, neuroinflammation and oxidative stress. We previously showed that ACTH 1-39, a melanocortin, protects OL in mixed glial cultures and enriched OL cultures, inhibiting OL death induced by staurosporine, ionotropic glutamate receptors, quinolinic acid or reactive oxygen species (ROS), but not nitric oxide (NO) or kynurenic acid. OL express melanocortin receptor 4 (MC4R), suggesting a direct protective effect of ACTH 1-39 on OL.

Arachidonate 5-lipoxygenase (ALOX5) gene polymorphism is associated with Alzheimer's disease and body mass index

Omar Šerý, Lýdia Hlinecká, Jana Povová, Ondřej Bonczek, Tomáš Zeman, Vladimír Janout, Petr Ambroz, Naim A. Khan, Vladimir J. Balcar

Dementias of old age, in particular Alzheimer's disease (AD), pose a growing threat to the longevity and quality of life of individuals as well as whole societies world-wide. The risk factors are both genetic and environmental (life-style) and there is an overlap with similar factors predisposing to cardiovascular diseases (CVD). Using a case–control genetic approach, we have identified a SNP (rs10507391) in ALOX5 gene, previously associated with an increased risk of stroke, as a novel genetic risk factor for AD.    

Early administration of tissue-plasminogen activator improves the long-term clinical outcome at 5 years after onset

Junya Aoki, Kazumi Kimura, Yuki Sakamoto

Data on long-term outcomes after tissue-plasminogen activator (tPA) therapy are limited. We evaluated the rate of favorable outcomes and mortality at 5 years after tPA therapy and investigated factors related to long-term clinical outcomes.

Autoimmune atypical parkinsonism — A group of treatable parkinsonism

Sudheeran Kannoth, Anandkumar Anandakkuttan, Annamma Mathai, Anuja Nirmala Sasikumar, Vivek Nambiar

Immunological causes of atypical parkinsonism/Parkinson plus syndromes are rare.

PARK16 polymorphisms, interaction with smoking, and sporadic Parkinson's disease in Japan

Yoshihiro Miyake, Keiko Tanaka, Wakaba Fukushima, Chikako Kiyohara, Satoshi Sasaki, Yoshio Tsuboi, Tomoko Oeda, Hiroyuki Shimada, Nobutoshi Kawamura, Nobutaka Sakae, Hidenao Fukuyama, Yoshio Hirota, Masaki Nagai, Yoshikazu Nakamura, Fukuoka Kinki Parkinson's Disease Study Group

Epidemiological evidence on the relationships between PARK16 single nucleotide polymorphisms (SNPs) and Parkinson's disease (PD) is inconsistent. We examined this issue in Japan. Included were 229 cases within six years of PD onset. Controls were 356 patients without neurodegenerative disease. Compared with subjects with the AA genotype of SNP rs823128, those with the AG genotype, but not the GG genotype, had a significantly reduced risk of sporadic PD. Compared with the AA genotype of SNP rs947211, both the AG genotype and the GG genotype were significantly related to an increased risk of sporadic PD.

Elevation of serum CXC chemokine ligand-12 levels predicts poor outcome after aneurysmal subarachnoid hemorrhage

De-Sheng Pan, Min Yan, Muhammad Hassan, Ze-Bin Fang, Man-Tao Chen

CXC chemokine ligand-12 (CXCL12) is involved in the innate immune system. Elevation of its level in the peripheral blood is associated with severity and outcome of ischemic stroke. This study aimed to investigate its relation to severity and prognosis following aneurysmal subarachnoid hemorrhage (aSAH).

Orthostatic hypotension and cardiac sympathetic denervation in Parkinson disease patients with REM sleep behavioral disorder

Joong-Seok Kim, Hyung-Eun Park, Yoon-Sang Oh, Si-Hoon Lee, Jeong-Wook Park, Byung-chul Son, Kwang-Soo Lee

Rapid eye movement (REM) sleep behavioral disorder (RBD), orthostatic hypotension (OH), and cardiac sympathetic denervation were commonly observed in PD and are related in both the premotor and motor periods. This study is intended to evaluate if the OH and cardiac sympathetic denervation found in PD are associated with RBD.

Association between Helicobacter pylori infection and carotid atherosclerosis in patients with vascular dementia

Yuzhen Xu, Qian Wang, Yunlin Liu, Ruiting Cui, Kaili Lu, Yuwu Zhao

Accumulating evidence indicates that various infections contribute to the pathogenesis of atherosclerosis. Helicobacter pylori (Hp) has been implicated as a risk factor of atherosclerosis for stroke and other cardiovascular disease, but limited data exist regarding vascular dementia (VD). This study aimed to investigate the relationship between Hp infection and carotid atherosclerosis in patients with VD.

Cognition, mood, and purpose in life in neuromyelitis optica spectrum disorder

Kristen R. Hollinger, Caroline Franke, Ana Arenivas, Steven R. Woods, Maureen A. Mealy, Michael Levy, Adam I. Kaplin

Neuromyelitis optica spectrum disorder (NMOSD) is a rare neurological condition that affects an estimated 4000–8000 people in the United States, making it about 100 times less prevalent than multiple sclerosis (MS) [1]. The criteria for a diagnosis of NMOSD, newly developed by the International Panel for NMOSD diagnosis, requires either the presentation of at least one core clinical characteristic of NMOSD and aquaporin-4 (AQP4)-IgG positivity in the absence of alternative diagnoses, or the presentation of at least two disseminated core clinical characteristics (one being optic neuritis, acute myelitis with longitudinally extensive transverse myelitis lesions, or area postrema syndrome) and fulfillments of MRI requirements in the case of optic neuritis acute myelitis, area postrema syndrome, and acute brainstem syndrome if the patient has a negative or unknown AQP4-IgG status [2].

Atorvastatin enhances angiogenesis to reduce subdural hematoma in a rat model

Dong Wang, Tuo Li, Huijie Wei, Yi Wang, Guili Yang, Ye Tian, Zilong Zhao, Liang Wang, Shengping Yu, Yongqiang Zhang, Jieli Chen, Rongcai Jiang, Jian Ning Zhang

Statins are active in reducing plasma lipids, suppressing inflammation and promoting angiogenesis. Because angiogenesis is critical for the absorbance of subdural hematoma (SDH), we hypothesize that atorvastatin promotes angiogenesis to enhance hematoma absorption.

Optic neuritis with positive HLA-B27: Characteristic phenotype in the Chinese population

Shuo Zhao, Huanfen Zhou, Xudong Peng, Jian Zhu, Wei Wang, Hao Kang, Tingjun Chen, Quangang Xu, Shihui Wei

This study retrospectively reviewed the clinical features of optic neuritis (ON) with positive HLA-B27.

Adenosine A1 receptors mediate the intracisternal injection of orexin-induced antinociceptive action against colonic distension in conscious rats

Toshikatsu Okumura, Tsukasa Nozu, Shima Kumei, Kaoru Takakusaki, Saori Miyagishi, Masumi Ohhira

We have recently demonstrated that orexin acts centrally through the brain orexin 1 receptors to induce an antinociceptive action against colonic distension in conscious rats. Adenosine signaling is capable of inducing an antinociceptive action against somatic pain; however, the association between changes in the adenosinergic system and visceral pain perception has not been investigated. In the present study, we hypothesized that the adenosinergic system may be involved in visceral nociception, and thus, adenosine signaling may mediate orexin-induced visceral antinociception.  

Reaction time and rhythm of movement in Huntington's disease

A. Martínez Pueyo, P.J. García-Ruiz, C.E. Feliz, J. Garcia Caldentey, J. Del Val, A. Herranz

Huntington disease (HD) is characterized by several hyperkinesias though motor slowness is also another cardinal in this disease. In addition, self-paced timing movements are also disturbed in HD, which may also affect several rhythmic voluntary movements such as gait. Motor slowness can be measured with clinical scales such as the Unified Huntington's Disease Rating Scale (UHDRS) and timed tests, but also with the reaction time (RT) paradigm. We evaluated RT as a measure of motor slowness in 30 patients with genetically confirmed Huntington's disease and 24 control subjects.           

Does education modify motor compensation in Parkinson's disease?

Mun K. Sunwoo, Jin Yong Hong, Jae J. Lee, Phil H. Lee, Young H. Sohn

In Alzheimer's disease, higher educational attainment is associated with fewer cognitive deficits despite similar pathological lesions. In animal models of Parkinson's disease (PD), enhanced levels of cognitive and physical stimulation can reduce motor deficits due to dopaminergic neuronal loss. Therefore, in this study, we tested whether higher educational attainment has a beneficial influence on PD motor symptoms.

Relationship between symptom change, relapse activity and disability progression in multiple sclerosis

Yuliang Liu, Charity Morgan, Lindsey Hornung, Tuula Tyry, Amber R. Salter, Neetu Agashivala, Daniel A. Belletti, Edward Kim, Robert J. Fox, Stacey S. Cofield, Gary R. Cutter

Symptom changes may serve as a risk factor for relapse activity (RA) and disability progression (DP), which could facilitate multiple sclerosis (MS) treatment decisions.

Neurotoxicity to DRG neurons varies between rodent strains treated with cisplatin and bortezomib

Jewel L. Podratz, Amit Kulkarni, Josef Pleticha, Rahul Kanwar, Andreas S. Beutler, Nathan P. Staff, Anthony J. Windebank

Chemotherapy-induced peripheral neuropathy (CIPN) is a major dose limiting side effect that can lead to long-term morbidity. Approximately one-third of patients receiving chemotherapy with taxanes, vinca alkaloids, platinum compounds or proteasome inhibitors develop this toxic side effect. It is not possible to predict who will get CIPN, however, genetic susceptibility may play a role. We explored this hypothesis using an established in vitro dorsal root ganglia neurite outgrowth (DRG-NOG) assay to assess possible genetic influences for cisplatin- and bortezomib-induced neurotoxicity.      

Bilateral simultaneous sudden sensorineural hearing loss

Yen-Hung Chen, Yi-Ho Young

This study adopted an inner ear test battery and MR imaging in patients with bilateral sudden sensorineural hearing loss (SSNHL) to investigate their causes, disease extent, and evaluate hearing outcome.

Brief International Cognitive Assessment for Multiple Sclerosis (BICAMS): Canadian contribution to the international validation project

Lisa A.S. Walker, Leila Osman, Jason A. Berard, Laura M. Rees, Mark S. Freedman, Heather MacLean, Denis Cousineau

Given the high prevalence of cognitive dysfunction in people with multiple sclerosis (PWMS) and the lack of availability of specialized neuropsychological services in most MS Clinics, there is a need for a brief cognitive monitoring tool that can be easily administered by MS clinic staff.

Low-signal-intensity rim on susceptibility-weighted imaging is not a specific finding to progressive multifocal leukoencephalopathy

Maki Umino, Masayuki Maeda, Yuichiro Ii, Hidekazu Tomimoto, Hajime Sakuma

Low-signal-intensity (LSI) rim along deep layers of the cerebral cortex is reportedly a susceptibility-weighted imaging (SWI) finding in progressive multifocal leukoencephalopathy (PML). We aimed to evaluate whether this finding can be identified in diseases other than PML.

Cerebral gas embolism associated with central venous catheter: Systematic review

João Pinho, José Manuel Amorim, José Manuel Araújo, Helena Vilaça, Manuel Ribeiro, João Pereira, Carla Ferreira

Cerebral gas embolism (CGE) is a potentially catastrophic complication of central venous catheters (CVCs) manipulation or accidental disconnection, which is rarely reported in the literature. This systematic review aims to characterize the clinical manifestations, imaging features and outcome of CGE associated with CVCs.

Opsoclonus in a patient with increased titers of anti-GAD antibody provides proof for the conductance-based model of saccadic oscillations

Aasef G. Shaikh, George Wilmot

Paucity in gamma-amino butyric acid (GABA) due to blockage in the action of glutamic acid decarboxylase (GAD), as seen in the syndrome of anti-GAD antibody, causes adult onset cerebellar ataxia, muscle rigidity, and episodic spasms. Downbeat nystagmus, saccadic dysmetria, impaired ocular pursuit, and impaired cancelation of vestibular ocular reflex are typical ocular motor deficits in patients with syndrome of anti-GAD antibody. We describe opsoclonus, in addition to downbeat nystagmus, in a patient with increased titers of anti-GAD antibody.

Intraspinal delivery of bone marrow stromal cell-derived neural stem cells in patients with amyotrophic lateral sclerosis: A safety and feasibility study

Shahriar Nafissi, Hadi Kazemi, Taki Tiraihi, Nahid Beladi-Moghadam, Soghrat Faghihzadeh, Elham Faghihzadeh, Davoud Yadegarynia, Mostafa Sadeghi, Leili Chamani-Tabriz, Abdollah Khanfakhraei, Taher Taheri

Stem cells have been used in several studies with different methodologies to treat patients with ALS.

Heart failure and the risk of ischemic stroke recurrence: A systematic review and meta-analysis

Aristeidis H. Katsanos, John Parissis, Alexandra Frogoudaki, Agathi-Rosa Vrettou, Ignatios Ikonomidis, Ioannis Paraskevaidis, Nikolaos Triantafyllou, Odysseas Kargiotis, Konstantinos Voumvourakis, Andrei V. Alexandrov, Georgios Tsivgoulis

Heart failure (HF) is known to be a major risk factor for first-ever ischemic stroke (IS), and is associated with greater stroke severity and higher rates of early mortality and residual disability. There are limited data regarding the association of HF with stroke recurrence. We sought to evaluate the relationship between HF and recurrent IS using a comprehensive meta-analytical approach. We performed a systematic literature review according to PRISMA guidelines to identify all prospective study protocols (randomized clinical trials or observational cohorts) that reported rates of IS recurrence in patients with concomitant HF.          

Ultrasound of the nerves — An appropriate addition to nerve conduction studies to differentiate paraproteinemic neuropathies

Ioanna M. Athanasopoulou, Maria Rasenack, Christine Grimm, Hubertus Axer, Michael Sinnreich, Bernhard F. Décard, Alexander Grimm

To investigate the use of peripheral nerve ultrasound (PNUS) in addition to nerve conduction studies (NCS) in the diagnosis of paraproteinemic neuropathies (PN).

Outcomes after acute ischemic stroke in patients with thrombocytopenia or thrombocytosis

Julio C. Furlan, Jiming Fang, Frank L. Silver

Thrombocytopenia may be associated with a greater risk of cerebral hemorrhage and thrombocytosis may be associated with a greater risk of cerebral thrombosis. There is a paucity of studies focused on the potential association between blood platelet count (BPC) and outcomes after acute ischemic stroke (AIS). We hypothesized that abnormal BPC is associated with poorer outcomes after AIS.

Test–retest reliability of single and paired pulse transcranial magnetic stimulation parameters in healthy subjects

A.M. Hermsen, A. Haag, C. Duddek, K. Balkenhol, H. Bugiel, S. Bauer, V. Mylius, K. Menzler, F. Rosenow

To determine the influence of different factors on test–retest reliability of frequently used transcranial magnetic stimulation (TMS) parameters while controlling for potential confounders in healthy subjects.

Relationship of circulatory BDNF with cognitive deficits in people with Parkinson's disease

Hanan Khalil, Mahmoud A. Alomari, Omar F. Khabour, Aya Al-Hieshan, Jawad A. Bajwa

Brain-derived neurotrophic factor (BDNF) and cognitive function are diminished in people with Parkinson's disease (PD). The relationship of cognitive function and serum level of BDNF, however is yet to be examined. The aim of this study was to examine serum BDNF levels in PD. Subsequently, the relationship of cognitive function to the serum levels of BDNF was evaluated.

Objectifying eye movements during rapid number naming: Methodology for assessment of normative data for the King–Devick test

John-Ross Rizzo, Todd E. Hudson, Weiwei Dai, Ninad Desai, Arash Yousefi, Dhaval Palsana, Ivan Selesnick, Laura J. Balcer, Steven L. Galetta, Janet C. Rucker

Concussion is a major public health problem and considerable efforts are focused on sideline-based diagnostic testing to guide return-to-play decision-making and clinical care. The King–Devick (K–D) test, a sensitive sideline performance measure for concussion detection, reveals slowed reading times in acutely concussed subjects, as compared to healthy controls; however, the normal behavior of eye movements during the task and deficits underlying the slowing have not been defined.

Extracranial and intracranial vertebral artery dissections: A comparison of clinical findings

Hiromasa Kobayashi, Takashi Morishita, Toshiyasu Ogata, Juntaro Matsumoto, Masakazu Okawa, Toshio Higashi, Tooru Inoue

The diagnostic criteria for extracranial vertebral artery dissection (VAD) have not been standardized among stroke centers. Recent studies have shown that extracranial (EVAD) and intracranial (IVAD) VAD may be different clinical entities. In this study, we reviewed clinical findings, including image findings of VAD cases, and compared these findings to EVAD and IVAD cases to highlight the clinical characteristics of EVAD.

High-intensity resistance training in multiple sclerosis — An exploratory study of effects on immune markers in blood and cerebrospinal fluid, and on mood, fatigue, health-related quality of life, muscle strength, walking and cognition

Marie Kierkegaard, Ingrid E. Lundberg, Tomas Olsson, Sverker Johansson, Sofia Ygberg, Christina Opava, Lotta Widén Holmqvist, Fredrik Piehl

High-intensity resistance training is unexplored in people with multiple sclerosis.

Association between urine protein/creatinine ratio and cognitive dysfunction in Lewy body disorders

Yoon-Sang Oh, Joong-Seok Kim, Hyung-Eun Park, In-Uk Song, Jeong-Wook Park, Dong-Won Yang, Byung-chul Son, Si-Hoon Lee, Kwang-Soo Lee

Impaired renal function and proteinuria have been associated with cognitive impairment and dementia. Chronic kidney disease is considered to be an independent risk factor for Lewy body spectrum disorders (LBD). However, few studies have mentioned an association between proteinuria and cognition in LBD. We investigated the relationship between proteinuria and cognitive dysfunction in patients with Parkinson's disease (PD) and dementia with Lewy bodies (DLB).

Effects of tafamidis treatment on transthyretin (TTR) stabilization, efficacy, and safety in Japanese patients with familial amyloid polyneuropathy (TTR-FAP) with Val30Met and non-Varl30Met: A phase III, open-label study

Ando Yukio, Sekijima Yoshiki, Obayashi Konen, Yamashita Taro, Ueda Mitsuharu, Misumi Yohei, Morita Hiroshi, Machii Katsuyuki, Ohta Makoto, Takata Ami, Ikeda Shû-ichi

The efficacy and safety of tafamidis in transthyretin (TTR) familial amyloid polyneuropathy (TTR-FAP) were evaluated in this open-label study.

Tremor frequency characteristics in Parkinson's disease under resting-state and stress-state conditions

Hong Ji Lee, Woong Woo Lee, Sang Kyong Kim, Hyeyoung Park, Hyo Seon Jeon, Han Byul Kim, Beom S. Jeon, Kwang Suk Park

Tremor characteristics—amplitude and frequency components—are primary quantitative clinical factors for diagnosis and monitoring of tremors. Few studies have investigated how different patient's conditions affect tremor frequency characteristics in Parkinson's disease (PD). Here, we analyzed tremor characteristics under resting-state and stress-state conditions. Tremor was recorded using an accelerometer on the finger, under resting-state and stress-state (calculation task) conditions, during rest tremor and postural tremor.       

Recombinant human soluble thrombomodulin ameliorates cerebral ischemic injury through a high-mobility group box 1 inhibitory mechanism without hemorrhagic complications in mice

Yoshihiko Nakamura, Takafumi Nakano, Keiichi Irie, Kazunori Sano, Junichi Tanaka, Yuta Yamashita, Tomomitsu Satho, Koichi Matsuo, Masayuki Fujioka, Hiroyasu Ishikura, Kenichi Mishima

It has been reported that recombinant human soluble thrombomodulin (rhsTM) has a high-mobility group box (HMGB)1 inhibitory effect. Some investigators reported that HMGB1 is associated with ischemic stroke. However, there have been no previous studies to determine whether rhsTM can ameliorate cerebral ischemic injury through its HMGB1 inhibitory mechanism in ischemic stroke. We investigated the effects of rhsTM on cerebral ischemic injury in a 4-h middle cerebral artery occlusion (MCAO) murine model.

Diffusion tensor imaging of the extracorticospinal network in the brains of patients with Wilson disease

Xiang-xue Zhou, Xun-hua Li, Haolin Qin, Gui-dian Li, Hai-wei Huang, Ying-ying Liang, Xiu-ling Liang, Xiao-Yong Pu

To evaluate damage to the extracorticospinal tract in Wilson disease (WD) patients using diffusion tensor imaging (DTI).

Blepharospasm in a multiplex African-American pedigree

Jianfeng Xiao, Misty M. Thompson, Satya R. Vemula, Mark S. LeDoux

Isolated blepharospasm (BSP) is a late-onset focal dystonia characterized by involuntary contractions of the orbicularis oculi muscles. Genetic studies of BSP have been limited by the paucity of large multiplex pedigrees. Although sequence variants (SVs) in THAP1 have been reported in rare cases of BSP, the genetic causes of this focal dystonia remain largely unknown. Moreover, in the absence of family history and strong in silico or in vitro evidence of deleteriousness, the pathogenicity of novel SVs in THAP1 and other dystonia-associated genes can be indeterminate.

Probable high prevalence of limb-girdle muscular dystrophy type 2D in Taiwan

Wen-Chen Liang, Po-Ching Chou, Chia-Cheng Hung, Yi-Ning Su, Tsu-Min Kan, Wan-Zi Chen, Yukiko K. Hayashi, Ichizo Nishino, Yuh-Jyh Jong

Limb-girdle muscular dystrophy type 2D (LGMD2D), an autosomal-recessive inherited LGMD, is caused by the mutations in SGCA. SGCA encodes alpha-sarcoglycan (SG) that forms a heterotetramer with other SGs in the sarcolemma, and comprises part of the dystrophin-glycoprotein complex. The frequency of LGMD2D is variable among different ethnic backgrounds, and so far only a few patients have been reported in Asia. We identified five patients with a novel homozygous mutation of c.101G > T (p.Arg34Leu) in SGCA from a big aboriginal family ethnically consisting of two tribes in Taiwan.

FDG-PET study of patients with Leigh syndrome

Kauzhiro Haginoya, Tomohiro Kaneta, Noriko Togashi, Naomi Hino-Fukuyo, Tomoko Kobayashi, Mitsugu Uematsu, Taro Kitamura, Takehiko Inui, Yukimune Okubo, Yusuke Takezawa, Mai Anzai, Wakaba Endo, Noriko Miyake, Hirotomo Saitsu, Naomichi Matsumoto, Shigeo Kure

We conducted a [18F]fluorodeoxyglucose positron emission tomography (FDG-PET) study in five patients (median age 11 (range 4–13) years) with Leigh syndrome to evaluate its usefulness for understanding the functional brain dysfunction in this disease and in future drug trials. Four patients were found to have reported mitochondrial DNA gene mutations. The brain T2-weighted magnetic resonance imaging (MRI) showed high-intensity areas in the putamen bilaterally in five patients, caudate bilaterally in four, thalamus bilaterally in two, and brainstem in one.

Effects of anodal transcranial direct current stimulation (tDCS) on behavioral and spatial memory during the early stage of traumatic brain injury in the rats

Kyung Jae Yoon, Yong-Taek Lee, Seoung Wan Chae, Chae Ri Park, Dae Yul Kim

Transcranial direct current stimulation (tDCS) is a noninvasive technique to modulate the neural membrane potential. Its effects in the early stage of traumatic brain injury (TBI) have rarely been investigated. This study assessed the effects of anodal tDCS on behavioral and spatial memory in a rat model of traumatic brain injury. Thirty six rats underwent lateral fluid percussion and were then randomly assigned to one of three groups: control (n = 12), five-day tDCS over peri-lesional cortex at one (1W, n = 12), or two (2W, n = 12) weeks post-injury.      

Synaptotagmin XI in Parkinson's disease: New evidence from an association study in Spain and Mexico

Angel Sesar, Pilar Cacheiro, Marisol López-López, Montserrat Camiña-Tato, Beatriz Quintáns, Nancy Monroy-Jaramillo, María-Elisa Alonso-Vilatela, Ernesto Cebrián, Petra Yescas-Gómez, Begoña Ares, María-Teresa Rivas, Alfonso Castro, Angel Carracedo, María-Jesús Sobrido

The pathophysiology of PD (Parkinson's disease) has been related to the ubiquitin proteasome system and oxidative stress. Parkin acts as ubiquitin ligase on several substrates. Because genetic variants often have different frequencies across populations, population specific analyses are necessary to complement and validate results from genome-wide association studies.

Liver function in Huntington's disease assessed by blood biochemical analyses in a clinical setting

Signe Marie Borch Nielsen, Tua Vinther-Jensen, Jørgen E. Nielsen, Anne Nørremølle, Lis Hasholt, Lena E. Hjermind, Knud Josefsen

Huntington's disease (HD) is a dominantly inherited, progressive neurological disorder caused by a CAG repeat elongation in the huntingtin gene. In addition to motor-, psychiatric- and cognitive dysfunction, peripheral disease manifestations in the form of metabolic changes and cellular dysfunction are seen. Blood levels of a wide range of hormones, metabolites and proteins have been analyzed in HD patients, identifying several changes associated with the disease. However, a comprehensive panel of liver function tests (LFT) has not been performed.

Angiopoietin-like protein 4 serum levels and gene polymorphisms are associated with large artery atherosclerotic stroke

Xin-Wei He, Yu-Guang Shen, Min Zhu, Xiao-Fei Hu, Zhou Zheng, Peng Liu, Cai Li, Feng Zhu, Xiao-Ping Jin

Angiopoietin-like protein 4 (ANGPTL4) is a central player in lipid metabolism and atherosclerosis and may thus be involved in ischaemic stroke. However, no study in humans has investigated the association of ANGPTL4 gene polymorphisms or serum levels with ischaemic stroke.

Punding in non-demented Parkinson's disease patients: Relationship with psychiatric and addiction spectrum comorbidity

Mauro Pettorruso, Alfonso Fasano, Luisa De Risio, Lucia Ricciardi, Marco Di Nicola, Giovanni Martinotti, Luigi Janiri, Anna Rita Bentivoglio

Punding is a stereotyped behavior characterized by an intense fascination with a complex, excessive, non-goal oriented, repetitive activity, associated with dopaminergic replacement therapy (DRT) in patients affected by Parkinson's disease (PD) and with dopamine agonists in several conditions. We studied 25 PD patients with punding behaviors, and compared them to 130 PD controls. The psychiatric evaluation included: the Snaith-Hamilton Pleasure Scale (SHAPS); the SCales for Outcomes in PArkinson's disease-Psychiatric Complications (SCOPA-PC); the Barratt Impulsiveness Scale, Version 11 (BIS-11); the Mood Disorder Questionnaire; the Hamilton Depression Rating Scale (HDRS) and Hamilton Anxiety Rating Scale (HARS).  


Clinical Short Communications

Nurse led telephone assessment of expanded disability status scale assessment in MS patients at high levels of disability

S. Huda, A. Cavey, A. Izat, P. Mattison, M. Boggild, J. Palace

In clinical trials drop out bias reduces the validity of results. This is a particular problem in long-term multiple sclerosis (MS) studies, particularly when patients become progressively disabled and have increasing difficulty attending assessment clinics.