JNS-cover.jpgJournal of Neurological Sciences

Vol 365 | 15 June 2016 | Pages 1-214

Basic Research Papers

Age-dependent cognitive and affective differences in Alzheimer's and Parkinson's diseases in relation to MRI findings

Ryo Tokuchi, Nozomi Hishikawa, Kota Sato, Noriko Hatanaka, Yusuke Fukui, Mami Takemoto, Yasuyuki Ohta, Toru Yamashita, Koji Abe

To compare age-dependent changes in cognitive and affective functions related to white matter changes between patients with Alzheimer's disease (AD) and Parkinson's disease (PD).

Relations of blood pressure and head injury to regional cerebral blood flow

Jason E. Kisser, Allyssa J. Allen, Leslie I. Katzel, Carrington R. Wendell, Eliot L. Siegel, David Lefkowitz, Shari R. Waldstein

Hypertension confers increased risk for cognitive decline, dementia, and cerebrovascular disease. These associations have been attributed, in part, to cerebral hypoperfusion. Here we posit that relations of higher blood pressure to lower levels of cerebral perfusion may be potentiated by a prior head injury. Participants were 87 community-dwelling older adults — 69% men, 90% white, mean age = 66.9 years, 27.6% with a history of mild traumatic brain injury (mTBI) defined as a loss of consciousness ≤ 30 min resulting from an injury to the head, and free of major medical (other than hypertension), neurological or psychiatric comorbidities. 

Anti-JC virus seroprevalence in a Spanish multiple sclerosis cohort: JC virus seroprevalence in Spain

Yolanda Aladro, Rodrigo Terrero, Marta Cerezo, Ricardo Ginestal, Lucía Ayuso, Virginia Meca-Lallana, Jorge Millán, Laura Borrego, Marisa Martinez-Ginés, Luisa Rubio, Clara de Andrés, Ambrosio Miralles, Cristina Guijarro, Elena Rodríguez-García, José Manuel García-Dominguez, Carmen Muñoz-Fernández, Carlos López de Silanes, Mayra Gómez, Israel Thuissard, María Cerdán, Itziar Palmí, Luis Felipe Díaz-Garzón, Jose Meca-Lallana

To estimate the seroprevalence of anti-JCV antibodies, seroconverting rates and evolution of antibody levels in a multiple sclerosis (MS) Spanish cohort.

MLPA analysis of an Argentine cohort of patients with dystrophinopathy: Association of intron breakpoints hot spots with STR abundance in DMD gene

Leonela N. Luce, Viviana Dalamon, Marcela Ferrer, Diana Parma, Irene Szijan, Florencia Giliberto

Dystrophinopathies are X-linked recessive diseases caused by mutations in the DMD gene. Our objective was to identify mutations in this gene by Multiplex Ligation Probe Amplification (MLPA), to confirm the clinical diagnosis and determine the carrier status of at-risk relatives. Also, we aimed to characterize the Dystrophinopathies argentine population and the DMD gene. We analyzed a cohort of 121 individuals (70 affected boys, 11 symptomatic women, 37 at-risk women and 3 male villus samples). The MLPA technique identified 56 mutations (45 deletions, 9 duplications and 2 point mutations).

Olfactory dysfunction in patients with multiple sclerosis

Li-Min Li, Li-Na Yang, Lin-Jie Zhang, Ying Fu, Ting Li, Yuan Qi, Jing Wang, Da-Qi Zhang, Ningnannan Zhang, Jingchun Liu, Li Yang

Association of changes in olfactory-related structures with olfactory function in patients with multiple sclerosis (MS) is not well understood. We used a T&T olfactometer test kit to evaluate olfactory function in 26 patients with MS and 26 age- and sex-matched healthy controls (HC). Then, Brain MRI were performed and olfactory-related structures were analyzed in these subjects. Olfactory detection and recognition threshold were significantly higher in the MS group, interestingly olfactory recognition threshold positively correlated with expanded disability status scale scores in these patients.

Ipsilateral hemiparesis in lateral medullary infarction: Clinical investigation of the lesion location on magnetic resonance imaging

Masahiro Uemura, Hiroaki Naritomi, Hisakazu Uno, Arisa Umesaki, Kotaro Miyashita, Kazunori Toyoda, Kazuo Minematsu, Kazuyuki Nagatsuka

In 1946, Opalski reported two cases of Wallenberg syndrome with ipsilateral hemiparesis (IH). His hypothesis seems to be based on the view that IH is caused by post-decussating pyramidal tract damage. Afterwards, other researchers proposed a different hypothesis that ipsilateral sensory symptoms of limbs (ISSL) or ipsilateral limb ataxia (ILA) caused by lateral medullary infarction (LMI) might lead to ipsilateral motor weakness. The present study is aimed to clarify whether IH in LMI patients is attributable mainly to ISSL/ILA or disruption of ipsilateral post-decussating pyramidal tract.

Asymptomatic subjects differ less from their twin siblings with MS than from healthy controls in cognitive functioning. A Finnish Twin Cohort study

H. Kuusisto, T. Vahvelainen, P. Hämäläinen, T. Luukkaala, I. Elovaara

Cognitive impairment develops in some MS patients at any time during the course of the disease regardless of whether the patients have neurological disability or not. Underlying causes for the MS related cognitive decline are yet poorly understood but both genetic and environmental risk factors have been proposed.

Minimum intravenous thrombolysis utilization rates in acute ischemic stroke to achieve population effects on disability: A discrete-event simulation model

Lorena Hoffmeister, Pablo M. Lavados, Javier Mar, Merce Comas, Arantzazu Arrospide, Xavier Castells

The only pharmacological treatment with proven cost-effectiveness in reducing acute ischemic stroke (AIS) associated disability is intravenous thrombolysis with recombinant tissue plasminogen activator but it's utilization rate is still low in most of the world. We estimated the minimum thrombolysis utilization rate needed to decrease the prevalence of stroke-related disability at a population level by using a discrete-event simulation model.

Case-fatality and functional status three months after first-ever stroke in Vietnam

Tran L. Pham, Leigh Blizzard, Velandai Srikanth, Amanda G. Thrift, Nguyen T.K. Lien, Nguyen H. Thang, Seana L. Gall

To provide novel information on outcomes after first-ever stroke in Vietnam, case-fatality and functional status were assessed 3 months after stroke onset.

Suction thrombectomy after balloon maceration for dural venous sinus thrombosis

Chung-Wei Lee, Hon-Man Liu, Ya-Fang Chen, Yen-Heng Lin, Jaw-Lin Wang

To introduce the combination of suction thrombectomy (ST) and balloon maceration (BM) for the management of dural venous sinus thrombosis (DVST).

Plasma circulating cell-free mitochondrial DNA in the assessment of Friedreich's ataxia

Subrahamanyam Dantham, Achal K. Srivastava, Sheffali Gulati, Moganty R. Rajeswari

Friedreich's ataxia (FRDA) is one of the most devastating childhood onset neurodegenerative disease affecting multiple organs in the course of progression. FRDA is associated with mitochondrial dysfunction due to deficit in a nuclear encoded mitochondrial protein, frataxin. Identification of disease-specific biomarker for monitoring the severity remains to be a challenging topic. This study was aimed to identify whether circulating cell-free nuclear DNA (nDNA) and mitochondrial DNA (mtDNA) in blood plasma can be a potential biomarker for FRDA.         

Blood glucose levels and cortical thinning in cognitively normal, middle-aged adults

Alexandra M.V. Wennberg, Adam P. Spira, Corinne Pettigrew, Anja Soldan, Vadim Zipunnikov, George W. Rebok, Allen D. Roses, Michael W. Lutz, Michael M. Miller, Madhav Thambisetty, Marilyn S. Albert

Type II diabetes mellitus (DM) increases risk for cognitive decline and is associated with brain atrophy in older demented and non-demented individuals. We investigated (1) the cross-sectional association between fasting blood glucose level and cortical thickness in a sample of largely middle-aged, cognitively normal adults, and (2) whether these associations were modified by genes associated with both lipid processing and dementia. To explore possible modifications by genetic status, we investigated the interaction between blood glucose levels and the apolipoprotein E (APOE) ε4 allele and the translocase of the outer mitochondrial membrane (TOMM) 40 '523 genotype on cortical thickness. 

SLC1A2 rs3794087 are associated with susceptibility to Parkinson's disease, but not essential tremor, amyotrophic lateral sclerosis or multiple system atrophy in a Chinese population

Yaqian Xu, Bei Cao, YongPing Chen, RuWei Ou, QianQian Wei, Jing Yang, Bi Zhao, Wei Song, Hui-Fang Shang

The association between the polymorphism rs3794087 in the solute carrier family 1, member 2 (SLC1A2) and the risk of essential tremor (ET) among different studies is controversial. Considering the overlap of the clinical manifestations and pathological characteristics of ET, Parkinson's disease (PD), multiple system atrophy (MSA), as well as amyotrophic lateral sclerosis (ALS), we explored the possible genetic association of rs3794087 with ET, PD, MSA and ALS in a Chinese cohort.

Immunolocalization of Tom1 in relation to protein degradation systems in Alzheimer's disease

Kouki Makioka, Tsuneo Yamazaki, Masamitsu Takatama, Masaki Ikeda, Shigeo Murayama, Koichi Okamoto, Yoshio Ikeda

Alzheimer's disease (AD) is an age-related neurodegenerative disorder. Its pathological hallmarks are senile plaques (SPs), which contain extracellular deposits of amyloid β (Aβ) protein fibrils and dystrophic neurites (DNs), and neurofibrillary tangles (NFTs) containing hyperphosphorylated tau. Impairment of protein-degradation systems, including the ubiquitin-proteasome and the autophagy-lysosome systems, has been proposed as one of the causes of the accumulation of these aberrant proteins in AD brains.

Predictors of clinical outcome in patients with acute perforating artery infarction

Lumeng Yang, Wenjie Cao, Fei Wu, Yifeng Ling, Xin Cheng, Qiang Dong

We aimed to determine the predictive factors for super-acute perforating artery infarctions (PAI) involving lenticulostriate arteries infarctions (LSAI), anterior pontine arteries infarctions (APAI) and thalamic arteries infarctions (TAI). Whether intravenous thrombolysis (iv-tPA) therapy would influence the clinical outcome was also studied.

Can aerobic exercise alleviate flu-like symptoms following interferon beta-1a injections in patients with multiple sclerosis?

Martin Langeskov-Christensen, Tue Kjølhede, Egon Stenager, Henrik Boye Jensen, Ulrik Dalgas

Flu-like symptoms (FLS) are common side effects of interferon beta (IFNß) treatment, and may affect the willingness to initiate therapy, the long-term acceptability, and the adherence to the treatment. Case reports suggest that aerobic exercise is able to markedly reduce FLS following IFNß-1a injections in persons with multiple sclerosis (PwMS).

Thiopental sodium preserves the responsiveness to glutamate but not acetylcholine in rat primary cultured neurons exposed to hypoxia

Tomotaka Morita, Satoshi Shibuta, Jun Kosaka, Yuji Fujino

Although many in vitro studies demonstrated that thiopental sodium (TPS) is a promising neuroprotective agent, clinical attempts to use TPS showed mainly unsatisfactory results. We investigated the neuroprotective effects of TPS against hypoxic insults (HI), and the responses of the neurons to l-glutamate and acetylcholine application. Neurons prepared from E17 Wistar rats were used after 2 weeks in culture. The neurons were exposed to 12-h HI with or without TPS. HI-induced neurotoxicity was evaluated morphologically.                  

Multimodal evoked potentials follow up in multiple sclerosis patients under fingolimod therapy

R. Iodice, A. Carotenuto, R. Dubbioso, I. Cerillo, L. Santoro, F. Manganelli

Clinical trials have shown the therapeutic effect of fingolimod in reducing disease activity in relapsing-remitting multiple sclerosis (RR-MS), but its influence on nervous conduction assessed by evoked potentials (EPs) has not been previously investigated.

Urinary dysfunction and motor symptoms in untreated Parkinson's disease

Yasunori Mito, Ichiro Yabe, Hiroaki Yaguchi, Yasutaka Tajima

Objectives: The aim of the present study was to determine the associations of motor symptoms in untreated Parkinson's disease (PD) with urinary dysfunction. We therefore examined the association between the overactive bladder symptom score (OABSS) and Unified Parkinson's Disease Rating Scale (UPDRS). Patients and methods: Thirty-one untreated PD patients without dementia (12 men and 19 women with a mean age of 72.0 ± 6.7 years) were included in this study. Their urinary tract dysfunctions were rated using the OABSS.        

Quality of life in patients with myotonic dystrophy type 2

Vidosava Rakocevic Stojanovic, Stojan Peric, Teodora Paunic, Jovan Pesovic, Milorad Vujnic, Marina Peric, Ana Nikolic, Dragana Lavrnic, Dusanka Savic Pavicevic

To analyze quality of life (QoL) in a large cohort of myotonic dystrophy type 2 (DM2) patients in comparison to DM1 control group using both generic and disease specific questionnaires. In addition, we intended to identify different factors that might affect QoL of DM2 subjects.

A Japanese multicenter survey characterizing pain in Parkinson's disease

Shin-ichiro Kubo, Shinsuke Hamada, Tetsuya Maeda, Tsuyoshi Uchiyama, Masaya Hashimoto, Nobuatsu Nomoto, Osamu Kano, Tatsuya Takahashi, Hiroo Terashi, Tetsuya Takahashi, Taku Hatano, Takafumi Hasegawa, Yasuhiko Baba, Renpei Sengoku, Hirohisa Watanabe, Taro Kadowaki, Manabu Inoue, Satoshi Kaneko, Hideki Shimura, Hiroshi Nagayama

Pain is a frequent, troublesome symptom of PD but is under-recognized and poorly understood.

Neurotransmitter and their metabolite concentrations in different areas of the HPRT knockout mouse brain

Sarah K. Tschirner, Frank Gutzki, Erich H. Schneider, Roland Seifert, Volkhard Kaever

Lesch–Nyhan syndrome (LNS) is characterized by uric acid overproduction and severe neurobehavioral symptoms, such as recurrent self-mutilative behavior. To learn more about the pathophysiology of the disease, we quantified neurotransmitters and their metabolites in the cerebral hemisphere, cerebellum and the medulla oblongata of HPRT knockout mice, an animal model for LNS, in comparison to the corresponding wild-type. Our analyses included l-glutamate, 4-aminobutanoic acid (GABA), acetylcholine, serotonin, 5-hydroxyindoleacetic acid (5-HIAA), norepinephrine, l-normetanephrine, epinephrine and l-metanephrine and were conducted via high performance liquid chromatography (HPLC) coupled to tandem mass spectrometry (MS/MS).

Mucuna pruriens for Parkinson's disease: Low-cost preparation method, laboratory measures and pharmacokinetics profile

Erica Cassani, Roberto Cilia, Janeth Laguna, Michela Barichella, Manuela Contin, Emanuele Cereda, Ioannis U. Isaias, Francesca Sparvoli, Albert Akpalu, Kwabena Ofosu Budu, Maria Teresa Scarpa, Gianni Pezzoli

Parkinson's disease (PD) is a progressive neurological condition. Levodopa (LD) is the gold standard therapy for PD patients. Most PD patients in low-income areas cannot afford long-term daily Levodopa therapy. The aim of our study was to investigate if Mucuna pruriens (MP), a legume with high LD content that grows in tropical regions worldwide, might be potential alternative for poor PD patients.

Partial pharmacologic blockade shows sympathetic connection between blood pressure and cerebral blood flow velocity fluctuations

Max J. Hilz, Ruihao Wang, Harald Marthol, Mao Liu, Alexandra Tillmann, Stephan Riss, Paulina Hauck, Katharina M. Hösl, Gerald Wasmeier, Brigitte Stemper, Martin Köhrmann

Cerebral autoregulation (CA) dampens transfer of blood pressure (BP)-fluctuations onto cerebral blood flow velocity (CBFV). Thus, CBFV-oscillations precede BP-oscillations. The phase angle (PA) between sympathetically mediated low-frequency (LF: 0.03–0.15 Hz) BP- and CBFV-oscillations is a measure of CA quality. To evaluate whether PA depends on sympathetic modulation, we assessed PA-changes upon sympathetic stimulation with and without pharmacologic sympathetic blockade. In 10 healthy, young men, we monitored mean BP and CBFV before and during 120-second cold pressor stimulation (CPS) of one foot (0 °C ice-water).   

Impact of a switch to fingolimod on depressive symptoms in patients with relapsing multiple sclerosis: An analysis from the EPOC (Evaluate Patient OutComes) trial

Samuel F. Hunter, Mark Agius, Deborah M. Miller, Gary Cutter, Luigi Barbato, Kevin McCague, Xiangyi Meng, Neetu Agashivala, Peter Chin, Eric Hollander

Depression is common in patients with multiple sclerosis (MS), may confound evaluation of therapeutic effectiveness and may be impacted by MS-specific treatments.

A survey based study on sleep disturbance in postural tachycardia syndrome

Xixi Xu, Hao Huang, Sunjay Sethi, José Rafael P. Zuzuárregui, Janice Weinberg, Anna DePold Hohler

Postural tachycardia syndrome (POTS) is an autonomic disturbance characterized by an excessive increase in heart rate when an individual moves from a sitting to an upright position. POTS patients often complain of fatigue, daytime sleepiness and insomnia, but there is limited evidence to elucidate the mechanism or the prevalence of sleep-related symptoms in POTS, as well as the effect on patient quality of life. Here, we investigated the prevalence of sleep disturbances in POTS patients, as well as the use of medication and effects on daily life.

Association of black race with recurrent stroke risk

Jong-Ho Park, Bruce Ovbiagele

The significantly higher risk of primary stroke in Black vs. Whites is very well established. However, very few studies have specifically examined the presence of this racial disparity in recurrent stroke risk.

Intraepidermal nerve fibre density in POEMS (Crow-Fukase) syndrome and the correlation with sural nerve pathology

Ken Ohyama, Haruki Koike, Rina Hashimoto, Mie Takahashi, Yuichi Kawagashira, Masahiro Iijima, Masahisa Katsuno, Gen Sobue

To examine intraepidermal nerve fibre densities (IENFDs) in patients with polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy and skin change (POEMS) syndrome.


Clinical Short Communications

Leukoencephalopathy with thalamus and brainstem involvement and high lactate caused by novel mutations in the EARS2 gene in two siblings

Sevim Şahin, Ali Cansu, Ersan Kalay, Tuba Dinçer, Sibel Kul, İsmet Miraç Çakır, Tülay Kamaşak, Gülden Yorgancıoğlu Budak

Leukoencephalopathy with thalamus and brainstem involvement, and high lactate (LTBL) is a recently identified disease related to mutations in the EARS2 gene encoding glutamyl-tRNA synthetase. We report clinical and radiological findings for two siblings with new pathogenic mutations in the EARS2 gene. Both patients showed symptoms of mild-type disease, but there were clinical differences between the two siblings. While the older brother had hypotonia and delayed developmental milestones, the younger brother had seizures and spasticity in the lower extremities.

Demyelinating Guillain-Barré syndrome recurs more frequently than axonal subtypes

Francesca Notturno, Norito Kokubun, Yukari Sekiguki, Takahide Nagashima, Angelo De Lauretis, Nobuhiro Yuki, Satoshi Kuwabara, Antonino Uncini

Guillain-Barré syndrome (GBS) is considered a monophasic disorder yet recurrences occur in up to 6% of patients. We retrospectively studied an Italian-Japanese population of 236 GBS and 73 Miller Fisher syndrome (MFS) patients and searched for factors which may be associated with recurrence. A recurrent patient was defined as having at least two episodes that fulfilled the diagnostic criteria for GBS and MFS with an identifiable recovery after each episode and a minimum of 2 months between episodes.  

Impact of video-ambulatory electroencephalography on the medical management of epilepsy

Francesco Manfredonia, Andrew Lawley, Andrea E. Cavanna

Video-ambulatory electroencephalography (video-AEEG) is increasingly being used in secondary care centres for the diagnostic work-up of new cases with suspected epilepsy and for the review of known cases with active seizures despite medical treatment. We reviewed how the outcome of video-AEEG influenced the medical management of patients who underwent this investigation at a neurophysiology department within a secondary care centre. Out of a total of 171 consecutive video-AEEG studies performed over a period of two years, 111 could be included in our retrospective analysis, based on availability and completeness of relevant clinical information pre- and post-investigation.  


Letters to the Editor

l-dopa-induced off: Functional overlay in Parkinson disease

Roberto Erro, Silvia Bozzetti, Fabrizio Goffi, Sara Mariotto, Michele Tinazzi

While the co-occurrence of functional neurological symptoms is clearly established in certain neurological populations (for instance, the occurrence of non-epileptic seizures in patients with epilepsy [1]), such an overlay has not been fully explored in patients with movement disorders. There exist in fact only three reports describing such a phenomenon in Parkinson disease (PD) [2–4]. To highlight this association, which in our experience is under-recognized, here we describe a PD patient, who also developed functional overlay manifested as l-dopa-induced off.

Emerging neuro-protective effects of Fasudil therapy

To the Editor

Metronidazole-induced combined peripheral and central vestibulopathy

Sun-Uk Lee, Il-Eok Jung, Hyo-Jung Kim, Ji-Soo Kim

Metronidazole is a widely used antibiotic and antiprotozoal agent, especially for the anaerobes. In addition to common gastrointestinal side effects, metronidazole rarely causes toxicity of the central nervous system (CNS). We report a patient who developed combined peripheral and central vestibulopathy after administration of the metronidazole.

N98S mutation in NEFL gene is dominantly inherited with a phenotype of polyneuropathy and cerebellar atrophy

Yi Yang, Li-Qiang Gu, William B. Burnette, Jun Li

Charcot–Marie–Tooth disease (CMT) is classified into either dysmyelinating or axonal type. The former exhibits slowed conduction velocities on nerve conduction studies (NCS) and abnormally developed myelin on nerve biopsies. In contrast, the latter shows normal or minimally slowed conduction velocities with axonal loss in its neuropathology. CMT can be transmitted in autosomal dominant, recessive or X-linked mode [3].

Alpha coma related to intentional bupropion overdose

Robert D. Bolen, Zeke Campbell, Leonardo Bonilha, Jonathan C. Edwards

Alpha coma has been traditionally regarded as a poor prognostic indicator, likely due to its early descriptions in relation to cardiopulmonary arrest [1]. Nonetheless, subsequent reports of alpha coma associated with other forms of encephalopathy have indicated that it can be associated with less adverse outcomes, and the clinical evolution is more dependent on the underlying etiology causing the pattern [2]. Alpha coma has been described after various medication overdoses, but it has not been described in relation to bupropion overdose. 

Recurrent cervical internal carotid artery vasospasm relating to menstruation with endothelial dysfunction

Kota Sato, Mami Takemoto, Nozomi Hishikawa, Yasuyuki Ohta, Toru Yamashita, Koji Abe

Vasospasm of the intracranial arteries is common in subarachnoid hemorrhage, eclampsia, reversible cerebral vasoconstriction syndrome (RCVS), and migraine [1]. By contrast, extracranial vasospasm may be caused by skull base surgery, catheter intervention to the carotid artery, and drug poisoning such as with ergot. Recurrent vasospasm of the extracranial internal carotid artery (ICA) was previously reported [2–4], although the causes remain unclear. Herein, we report a case with recurrent vasospasm of ICA relating to menstrual cycle with migrainous headache.

Aspirin, but not clopidogrel, ameliorates vasomotor symptoms due to essential thrombocythemia: A case report

Yuki Sakamoto, Chikako Nito, Arata Abe, Akane Nogami, Takahiro Sato, Kazutaka Sawada, Hiroyuki Hokama, Mai Yamada, Nanako Hijikata, Tomoaki Kumagai, Akiko Ishiwata, Hiroshi Nagayama, Kazumi Kimura

Vasomotor symptoms are transient neurological manifestations and occur in around 30% of patients with essential thrombocythemia (ET). The effectiveness of various antiplatelet regimens for vasomotor symptoms was not fully known. Herein, a patient with 11-year history of vasomotor symptoms is reported. Aspirin, but not clopidogrel ameliorates vasomotor symptoms.

Hemiparesis due to ipsilateral supratentorial stroke: Report of two cases

Benjamin Hebant, Yvan Vaschalde, Jean-Philippe Cochin, Clémence Hardy, Romain Lefaucheur

Corticospinal tract (CST) is the main motor neuronal pathway in the human brain. Almost all patients suffering from supratentorial stroke involving the CST exhibit contralateral motor weakness consistent with the contralateral projection of the CST. We report here two rare cases of patients that presented with hemiparesis associated with lesions of the supratentorial, ipsilateral CST and discuss possible pathophysiologic mechanisms.

Primary Sjögren's syndrome presenting with multiple aneurysmal dilatation of cerebral arteries and causing repetitive intracranial hemorrhage

Teppei Komatsu, Hidetaka Mitsumura, Ichiro Yuki, Yasuyuki Iguchi

Sjögren's syndrome (SS) is characterized by mononuclear infiltration and destruction of salivary and lachrymal glands leading to xerostomia and xerophthalmia [1]. This syndrome is classified as primary SS in the absence of other autoimmune diseases, and as secondary SS when it is associated with other autoimmune diseases such as rheumatoid arthritis, scleroderma, and systemic lupus erythematosus. The incidence of stroke among patients with SS is 2% and SS is even more rarely complicated with cerebral artery lesions [2].

Upper back restlessness: Two case reports

Takashi Ando, Yoji Goto, Kazuo Mano

Restless legs syndrome (RLS) is a common neurological, sensorimotor disorder that often profoundly disturbs sleep and quality of life. The essential diagnostic criteria of RLS include the following: 1) an usual urge to move the legs, but not always accompanied by or felt to be caused by uncomfortable and unpleasant sensation in the legs; 2) the urge to move the legs and any accompanying unpleasant sensations that begin or worsen during periods of rest or inactivity, such as lying down or sitting; 3) the urge to move the legs and any accompanying unpleasant sensations that are partially or totally relieved by movement, such as walking or stretching, at least as long as the activity continues; 4) the urge to move the legs and any accompanying unpleasant sensations during rest or inactivity that only occur or become worse in the evening or night than during daytime; and 5) the occurrence of the above symptoms is not solely accounted for by another primary medical or behavioral condition [1].

Parkinsonism in Spinocerebellar ataxia type 7

Dokyung Lee, Boo Suk Na, Il-Ki Hong, Tae-Beom Ahn

Spinocerebellar ataxia type 7 (SCA7) is caused by abnormal expansion of the CAG repeat in chromosome 3p12-p21.1. SCA7 is characterized by progressive ataxia, macular degeneration, abnormal extraocular movements (EOM), and pyramidal signs [1,2]. Although parkinsonism has been mentioned in an early report, clinical description was not given, parkinsonism was not reported in later studies, and no dopamine transporter (DAT) scan was done in the patients with SCA7 [1–4]. Here, we describe the case of a 33-year-old male patient with SCA7 who presented with parkinsonism and showed decreased uptake on DAT scan.

Prolonged Wallerian degeneration in the corticospinal tract following external capsular hemorrhage

Hee-Jin Kim, Won-Jin Moon

Neuronal degeneration can be transmitted via efferent or afferent connections following injury to neuronal cell bodies [1]. These pathological changes occur by Wallerian degeneration (WD) or trans-neuronal injury. WD refers to changes in the distal segment (relative to the cell body) in the central nervous system. Trans-neuronal degeneration is the trans-synaptic degeneration of axons and their surrounding myelin sheaths due to lesions either afferent or efferent to the neuron [2]. WD of the corticospinal tract can be visualized by high signal intensity on a diffusion-weighted image (DWI) for several weeks, but no longer [3,4].

The aetiology of Idiopathic Late Onset Cerebellar Ataxia (ILOCA): Clinical and imaging clues for a definitive diagnosis

Raquel Barbosa, Tânia Lampreia, Paulo Bugalho

Cerebellar ataxias constitute a heterogeneous group of disorders, which frequently remain without diagnosis. The term Idiopathic Late Onset Cerebellar Ataxias (ILOCA) was introduced to designate the apparently non-hereditary and non-symptomatic adult onset ataxias [1], a group that includes diverse clinical and imaging aspects. A considerable number of these patients are, on follow-up, diagnosed as Multiple System Atrophy (MSA) [2]. However, another group has genetic causes without family history and there are many that are left without diagnosis - Sporadic Adult Onset Ataxia of unknown etiology (SAOA) [2].

Selective impairment of horizontal vestibulo-ocular reflexes in acute Wernicke's encephalopathy

G. Akdal, H.G. MacDougall, L. Chen, T. Tanrıverdizade, O. Yiğitaslan, G.M. Halmagyi

Acute Wernicke's encephalopathy (aWE) is a medical emergency [1]. Delay in treatment can cause permanent cognitive impairment. The classic triad of encephalopathy, ataxia and ophthalmoplegia is not always present: some patients present with an acute vestibular syndrome with selective, symmetrical impairment only of horizontal and not of vertical vestibulo-ocular reflex (VOR) without encephalopathy or ophthalmoplegia [2]. Here we confirm this observation, show that this can be diagnosed and monitored with the video Head-Impulse Test and propose that this unusual pattern of vestibular impairment might be characteristic of aWE.

Cerebral air embolism likely due to pulmonary Mycobacterium avium complex disease

Keiichi Hokkoku, Midori Kuwabara, Takashi Chiba, Takamichi Kanbayashi, Hidehiko Ookuma, Yasuomi Kawamura, Yuki Hatanaka, Masahiro Sonoo

The entry of air into vascular structures can cause cerebral air embolism (CAE) that results in severe neurological deficits or even death [1–5]. Well-known causes of CAE include iatrogenic complications of several procedures, including central venous catheterization, pulmonary barotrauma, and decompression sickness [1–3]. In contrast, to the best of our knowledge, only three reports have investigated CAE associated with infectious lung disease. According to these reports, staphylococcal pneumoniae with pneumatoceles [4], continuous drainage of infected lung bullae [5], and pneumothorax following pneumonia [1] resulted in CAE.

Bilateral vertebral artery dissection in the setting of ADEM

Sören L. Stirn, Caroline Freilinger, Benjamin Roeben, Johannes Tünnerhoff, Daniela Berg, Tobias Freilinger

The pathophysiology of cervical artery dissection (CeAD), which accounts for a substantial number of strokes in young people, is insufficiently understood. Clinical and scientific observations are consistent with a multifactorial disease process, which comprises predisposing intrinsic factors as well as exogeneous triggers, including recent infection/inflammation [1].