Acoustic impairment is a distinguishable clinical feature of Asidan/SCA36

Ikeda, Yoshio; Ohta, Yasuyuki; Kurata, Tomoko; Shiro, Yoshihiko; Takao, Yoshiki; Abe, Kōji

doi:10.1016/j.jns.2012.10.013

Cited by 24 publications

(11 citation statements)

References 14 publications

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“…Hearing loss detected at diagnosis, and supported by auditory evoked potential deficit, was not very common (33.3%), previously reported only in SCA36 [21] , and debated in SCA31 [22] . Anxiety disorder might be considered an additional symptom for SCA38, present in 33.3%, of the reported cases; however, this was present in only one family, and further cases may elucidate the specific association between SCA38 and anxiety disorder.…”

Section: Discussionmentioning

confidence: 79%

Clinical and neuroradiological features of spinocerebellar ataxia 38 (SCA38)

Borroni

Gregorio

Orsi³

et al. 2016

Parkinsonism & Related Disorders

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IntroductionSCA38 (MIM 611805) caused by mutations within the ELOVL5 gene, which encodes an enzyme involved in the synthesis of long-chain fatty acids with a high and specific expression in Purkinje cells, has recently been identified.ObjectiveThe present study was aimed at describing the clinical and neuroimaging features, and the natural history of SCA38.MethodsWe extended our clinical and brain neuroimaging data on SCA38 including 21 cases from three Italian families. All had the ELOVL5 c.689G > T (p.Gly230Val) missense mutation.ResultsAge at disease onset was in the fourth decade of life. The presenting features were nystagmus (100% of cases) and slowly progressive gait ataxia (95%). Frequent signs and symptoms included pes cavus (82%) and hyposmia (76%); rarer symptoms were hearing loss (33%) and anxiety disorder (33%). The disease progressed with cerebellar symptoms such as limb ataxia, dysarthria, dysphagia, and ophtalmoparesis followed in the later stages by ophtalmoplegia. Peripheral nervous system involvement was present in the last phase of disease with sensory loss. Dementia or extrapyramidal signs were not detected. Significant loss of abilities of daily living was reported only after 20 years of the disease. Brain imaging documented cerebellar atrophy with sparing of cerebral cortex and no white matter disease.ConclusionsSCA38 is a rare form of inherited ataxia with characteristic clinical features, including pes cavus and hyposmia, that may guide genetic screening and prompt diagnosis in light of possible future therapeutic interventions.

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Section: Discussionmentioning

confidence: 79%

Clinical and neuroradiological features of spinocerebellar ataxia 38 (SCA38)

Borroni

Gregorio

Orsi³

et al. 2016

Parkinsonism & Related Disorders

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“…Hearing impairment is also a distinguishing feature, present in three-fourths of SCA36 patients in Taiwan, Japan, and Spain (74%–88%) and less frequently in France (44%). 1 , 2 , 4 , 5 Hearing is remarkably impaired at high frequencies and hearing defects correlate with disease duration and SARA scores, 24 suggesting a link between sensorineural hearing loss and SCA36 pathogenesis. In contrast to the much higher percentage (61%–71%) noted in initial reports, we observed tongue atrophy and fasciculation in only 20% of cases in this study (12% in France 5 and 25% in Japan 6 ; table 1 ).…”

Section: Discussionmentioning

confidence: 99%

Spinocerebellar ataxia type 36 in the Han Chinese

et al. 2016

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Objective:To ascertain the genetic and clinical characteristics of the GGCCTG hexanucleotide repeat expansion in the nucleolar protein 56 gene (NOP56) in patients with spinocerebellar ataxia (SCA), sporadic ataxia, or amyotrophic lateral sclerosis (ALS) in Taiwan.Methods:We conducted clinical and molecular genetic studies of 109 probands with molecularly unassigned SCA from 512 SCA pedigrees, 323 healthy controls, 502 patients with sporadic ataxia syndromes, and 144 patients with ALS. Repeat-primed PCR assays and PCR-fragment analysis for the number of short hexanucleotide repeats (<40 units) were performed to ascertain NOP56 hexanucleotide repeat expansion. Genotyping included 8 microsatellite markers and 17 single nucleotide polymorphisms flanking NOP56 and covering a region of 1.8 Mb to assess a possible founder effect.Results:Eleven individuals from 3 SCA pedigrees have the NOP56 repeat expansions. The 3 pedigrees share a common haplotype spanning 5.3 kb flanking the NOP56 repeat expansions, suggesting a founder effect of spinocerebellar ataxia type 36 (SCA36) in the Han Chinese. The average age at symptom onset was 44.8 ± 3.8 years with truncal ataxia as the initial manifestation. Common features included slowly progressive truncal/limb ataxia, dysarthria, generalized hyperreflexia, and hearing impairment. Evidence of lower motor neuron involvement, including atrophy and fasciculation in the limb muscles and tongue, was mostly found in patients with prolonged disease duration. NOP56 repeat expansion was not detected in controls or patients with sporadic ataxic syndromes or ALS.Conclusions:SCA36 is an uncommon subtype, which accounted for 0.6% (3/512) of SCA cases in the Han Chinese population.

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“…SCA36 is a unique subtype characterized by a late onset and a slow progression with sensorineural hearing loss and/or motor neuron involvement (3,4,10). The frequency and phenotype of reported SCA36 patients varies in different regions (characteristics of SCA36 in different regions are summarized in Table 3) (3,4,(11)(12)(13).…”

Section: Discussionmentioning

confidence: 99%

Genetic and clinical analysis of spinocerebellar ataxia type 36 in Mainland China

Zeng

et al. 2016

Clinical Genetics

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Spinocerebellar ataxia type 36 (SCA36) is a new SCA subtype recently reported in Japanese and Spanish pedigrees. To assess the frequency and clinical characteristics of SCA36 in patients from Mainland China, we combined the repeat-primed polymerase chain reaction method and Southern blot analysis to detect the GGCCTG hexanucleotide repeats of NOP56 in 364 probands with SCA, 126 probands with hereditary spastic paraplegia and 99 probands with amyotrophic lateral sclerosis (ALS). Systematic and targeted clinical evaluations and investigations were conducted in the SCA36 patients. As a result, eight autosomal dominant spinocerebellar ataxia (ADCA) pedigrees (a total of 13 patients) and one sporadic SCA (S-SCA) patient were identified as SCA36 in the SCA cohort, accounting for approximately 1.60% of the cases in the ADCA group and 0.32% of those in the S-SCA group in Mainland China. The characteristics include late onset and slow progression accompanied by acoustic impairments and 'possible' ALS phenotype in patients from Mainland China.

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Acoustic impairment is a distinguishable clinical feature of Asidan/SCA36

Cited by 24 publications

References 14 publications

Clinical and neuroradiological features of spinocerebellar ataxia 38 (SCA38)

Clinical and neuroradiological features of spinocerebellar ataxia 38 (SCA38)

Spinocerebellar ataxia type 36 in the Han Chinese

Genetic and clinical analysis of spinocerebellar ataxia type 36 in Mainland China

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