A case of juvenile parkinsonism with expanded SCA8 CTA/CTG repeats

Miyawaki, Toko; Sekiguchi, Kenji; Yasui, Naoko; Ueda, Takahiro; Kanda, Fumio; Toda, Tatsushi

doi:10.5692/clinicalneurol.53.278

Cited by 2 publications

(1 citation statement)

References 14 publications

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“…As for clinical manifestations, some typical signs could help discriminate different subtypes [2] , such as saccadic movement disorders in SCA2, vision impairment in SCA7, positional tremor in SCA12, chorea, epilepsy and dementia in DRPLA, psychiatric symptoms and dementia in SCA17. Parkinsonism could occur in SCA3, but in SCA8 it has been reported as a rare phenotype [26,27] , suggesting SCA8 should not be ignored when dealing with parkinsonism. SCA31 and SCA36 were really rare in Chinese population, no SCA37 reported.…”

Section: Discussionmentioning

confidence: 99%

The dynamic mutation investigation and whole exome sequencing in a cohort of Chinese autosomal dominant cerebellar ataxia patients

Peng¹,

Zhang²,

Zhou³

et al. 2020

Preprint

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Background Spinocerebellar ataxias (SCAs) are the autosomal dominant cerebellar ataxia (ADCA) with great clinical and genetic heterogeneity. Genetic testing will contribute to the final diagnosis. Methods A total of 204 Chinese ADCA patients were recruited and 190 had genetic testing. Dynamic mutations of SCA1,2,3,6,7,8,10,12,17 and dentatorubral-pallidoluysian atrophy (DRPLA) were screened firstly. For the patients with negative results, the dynamic mutations of HTT of Huntington Disease (HD), SCA31, 36 and even the whole exome sequencing (WES) were further performed. We investigated the genetic results and clinical characteristics retrospectively.Results Among these 190 index cases, 177(93.16%) were identified SCA dynamic mutations. SCA3 was the commonest, accounting for 70.06%, followed by SCA1 (9.6%), 2 (9.05%), 12 (3.39%), 6 (2.26%), DRPLA (2.26%), 7(1.13%), 8 (1.13%) and 17(0.56%). One patient carried a compound dynamic mutation of SCA6 and SCA17 (SCA6/17). No SCA10 or SCA36 was found. Among the remaining 13 patients, three were diagnosed with HD (1.58%) and one with Episodic Ataxia 2 (EA2).WES did reveal several variants with uncertain significance (VUS) in the remaining nine patients, but failed to detect causative mutations. ConclusionWe illustrated the approach and challenge of genetic testing in Chinese ADCA patients.Dynamic mutations of SCAs should be screened firstly. When the results were negative, dynamic mutation of HTT would better be screened consequently. In early-onset ADCA patients, WES might be effective to identify causative mutations, but in adult-onset cases, WES might be less effective.

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Section: Discussionmentioning

confidence: 99%

The dynamic mutation investigation and whole exome sequencing in a cohort of Chinese autosomal dominant cerebellar ataxia patients

Peng¹,

Zhang²,

Zhou³

et al. 2020

Preprint

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PSP-Phenotype in SCA8: Case Report and Systemic Review

et al. 2018

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Spinocerebellar ataxia type 8 (SCA8) is a rare autosomal dominant neurodegenerative disease caused by expanded CTA/CTG repeats in the ATXN8OS gene. Many patients had pure cerebellar ataxia, while some had parkinsonism, both without causal explanation. We analyzed the ATXN8OS gene in 150 Japanese patients with ataxia and 76 patients with Parkinson's disease or related disorders. We systematically reassessed 123 patients with SCA8, both our patients and those reported in other studies. Two patients with progressive supranuclear palsy (PSP) had mutations in the ATXN8OS gene. Systematic analyses revealed that patients with parkinsonism had significantly shorter CTA/CTG repeat expansions and older age at onset than those with predominant ataxia. We show the imaging results of patients with and without parkinsonism. We also found a significant inverse relationship between repeat sizes and age at onset in all patients, which has not been detected previously. Our results may be useful to genetic counseling, improve understanding of the pathomechanism, and extend the clinical phenotype of SCA8.

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A case of juvenile parkinsonism with expanded SCA8 CTA/CTG repeats

Cited by 2 publications

References 14 publications

The dynamic mutation investigation and whole exome sequencing in a cohort of Chinese autosomal dominant cerebellar ataxia patients

The dynamic mutation investigation and whole exome sequencing in a cohort of Chinese autosomal dominant cerebellar ataxia patients

PSP-Phenotype in SCA8: Case Report and Systemic Review

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