eNeurologicalScieNeurologicalSci Vol 17

December 2019

Original Articles

Anti-glutamic acid decarboxylase antibody (GAD) syndromes may have more aggressive disease course in African Americans and early onset of presentation compare to Caucasians group

Shitiz Sriwastava, Meghana Srinivas, Anila Kanna, Kalyan Yarraguntla, ... Edwin George

  • Article 100208
  • https://doi.org/10.1016/j.ensci.2019.100208
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  • Abstract

    Anti-Glutamic acid decarboxylase antibodies (GAD) are increasingly diagnosed in the clinic and this antibody related syndromes can manifest commonly as autoimmune encephalitis, Stiff person syndrome and cerebellar ataxia. However, it is unclear if the race has role in age of incidence, presentation and severity of symptoms of anti-GAD associated conditions. In our cohort of 40 patients who were anti-GAD positive, we observed that the age at which the anti-GAD titers turned out to be positive was significantly lower in African Americans (AA) compared to Caucasians (Cau) irrespective of the type of conditions. However, the age at symptoms onset didn't differ significantly different between these groups. Furthermore, AA anti-GAD positive patients had seizures as their initial presentation that was significantly higher in incidence compared to Cau indicating that AA have more aggressive form of autoimmune phenomenon for reasons unknown. Future studies to explore the variations in autoimmune process and their phenotypes may aid in understanding anti-GAD syndromes differently between these racial groups.

Chronic HCV infection and neuropsychiatric dysfunction

Ida Fortini, Eustáquio Martins Gomes Arouca, Fatima Mitiko Tengam, Ricardo Nitrini

Spinocerebellar ataxia type 10 (SCA10): Mutation analysis and common haplotype based inference suggest its rarity in Indian population

Divya Goel, Varun Suroliya, Uzma Shamim, Aradhna Mathur, Mohammed Faruq

  • Article 100211
  • https://doi.org/10.1016/j.ensci.2019.100211
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  • Abstract

    Spinocerebellar ataxia type 10 (SCA10) is a rare autosomal dominant cerebellar ataxia caused by nucleotide ATTCT expansion in ATXN10 gene. SCA10 has been reported in patients of cerebellar ataxia from Amerindian/Latin America and in East Asian ancestry. A common founder has been ascribed to the origin of ATTCT repeat expansion mutation in both the population. Here we present our investigation of the SCA10 pentanucleotide repeat expansion in 461 SCA patients of the Indian population. The analysis of multi-ethnic at-risk haplotype C-(ATTCT)n-GGC was performed using genotype data of various ethnic population included in the 1000 Genomes Project (KGP) to infer the prevalence of at-risk haplotype in the Indian populations. Unsurprisingly, none of the patient's DNA samples with (ATTCT)n expansion was observed in pathological range, however, the observed normal range of (ATTCT)n was 8–22 repeats, suggesting very rare or absence of the occurrence of SCA10 in Indian SCA patients. The at-risk haplotype, CGGC was found to be the most prevalent haplotype across different populations and no segregation of CGGC haplotype with large normal or small normal ATTCT repeats length was observed. However, on extended haplotype analysis, some lineage of CGGC with a flanking divergence at 5′ end was observed specifically in the American or East Asian population but not in other population in KGP dataset. Together, these evidence points towards the absence of SCA10 in Indian population and haplotype-based analysis also suggests its occurrence to be rare in South Asian, European and African population. Further investigations are required to establish the present finding.


    The implications of the findings of this study are 1.) For the diagnostic work-up of SCAs in the Indian population and to decide upon inclusion of SCA10 in panel based genetic investigations even for Indians living abroad. 2.) The haplotype based inference of its presumptive prevalence through the estimation of at-risk haplotype using population genetics approach (South-Asians as the background) allowed us to estimate the possible absence of SCA10 in Indian population. SCA10 is a rare autosomal dominant cerebellar ataxia mostly reported among SCA patients from Latin America and recently described in East Asia population. The genetic study of SCA10 performed in the unrelated Indian spinocerebellar ataxia patients with heterogeneous ethnicity confirmed its absence from the Indian population and that conforms to population genetic based inference of its rarity or absence. 3.) This approach may be adopted for the screening of other subtypes of SCAs, i.e. other rare SCAs e.g. SCA31, SCA36, and SCA37.

Sleep symptoms in syndromes of frontotemporal dementia and Alzheimer's disease: A proof-of-principle behavioural study

Tara P. Sani, Rebecca L. Bond, Charles R. Marshall, Chris J.D. Hardy, ... Jason D. Warren

  • Article 100212
  • https://doi.org/10.1016/j.ensci.2019.100212
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  • Abstract

    Sleep disruption is a key clinical issue in the dementias but the sleep phenotypes of these diseases remain poorly characterised. Here we addressed this issue in a proof-of-principle study of 67 patients representing major syndromes of frontotemporal dementia (FTD) and Alzheimer's disease (AD), in relation to 25 healthy older individuals. We collected reports on clinically-relevant sleep characteristics - time spent overnight in bed, sleep quality, excessive daytime somnolence and disruptive sleep events. Difficulty falling or staying asleep at night and excessive daytime somnolence were significantly more frequently reported for patients with both FTD and AD than healthy controls. On average, patients with FTD and AD retired earlier and patients with AD spent significantly longer in bed overnight than did healthy controls. Excessive daytime somnolence was significantly more frequent in the FTD group than the AD group; AD syndromic subgroups showed similar sleep symptom profiles while FTD subgroups showed more variable profiles. Sleep disturbance is a significant clinical issue in major FTD and AD variant syndromes and may be even more salient in FTD than AD. These preliminary findings warrant further systematic investigation with electrophysiological and neuroanatomical correlation in major proteinopathies.


Case Reports

Two cases of delayed perforating artery infarction adjacent to intracranial hemorrhage

Ken Yasuda, Takakuni Maki, Kimitoshi Kimura, Takashi Ayaki, ... Michikazu Nakamura

Subventricular glial nodules in neurofibromatosis 1 with craniofacial dysmorphism and occipital meningoencephalocele

Tadanori Hamano, Tatsuro Mutoh, Hironobu Naiki, Norimichi Shirafuji, ... Yasunari Nakamoto

  • Article 100213
  • https://doi.org/10.1016/j.ensci.2019.100213
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  • Abstract

    This case report describes a 50-year-old man with NF1, craniofacial dysmorphism, including sphenoid dysplasia, bone defects at the middle posterior fossa, with disconnection of the parieto-occipital sutures, and the left orbital bone, and occipital meningoencephalocele. He died of status epileptics. Pathologically, many SVGN were found around the ventricular wall. Many ependymal cells were stripped during ventricular dilatation. Therefore, to prevent brain tissue insult from direct exposure to CSF, the proliferation of astrocytes and their processes was speculated to have substitute for ependymal cells and induced SVGN formation.


Letters to the Editor

Adult-onset Rasmussen's encephalitis with persistent infection of herpes simplex virus

Yusuke Toda, Mineo Yamazaki, Akiko Ozawa, Tomohiro Ota, Kazumi Kimura

Perampanel improved intractable myoclonus in two patients with myoclonus epilepsy

Mutsumi Iijima, Hirokazu Oguni, Masaki Kobayashi, Kazuo Kitagawa

Multisystem mitochondrial disorder is more prevalent than BGC1 variants in patients with Fahr's syndrome

Josef Finsterer