Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): Clinical, Radiological and Epidemiological Aspects

Shimazaki, Hideyuki; Takiyama, Yoshihisa

doi:10.5772/28914

Cited by 1 publication

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“…In Japan, the most frequent ARCA is early-onset ataxia with oculomotor apraxia and hypoalbuminemia/ataxia with oculomotor apraxia type 1 (EAOH/AOA1) (Yokoseki et al, 2011), followed by autosomal recessive spastic ataxia of Charlevoix-Saguenay (AR-SACS) (Shimazaki and Takiyama, 2012), ataxia with oculomotor apraxia type 2 (AOA2) (Asaka et al, 2006;Ichikawa et al, 2013;Nakamura et al, 2009), and α-tocopherol transfer protein deficiency (Gotoda et al, 1995;Yokota et al, 1997). Ataxiatelangiectasia is relatively rare in Japan (Morio et al, 2009), as well as autosomal recessive cerebellar ataxia type 1 (SYNE1 mutation) (Izumi et al, 2013), ANO10 (Maruyama et al, 2014), and TTC19 (Morino et al, 2014).…”

Section: Introductionmentioning

confidence: 99%

Late-onset autosomal recessive cerebellar ataxia and neuropathy with a novel splicing mutation in the ATM gene

Shimazaki

Kobayashi

Sugaya

et al. 2020

Journal of Integrative Neuroscience

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Autosomal recessive cerebellar ataxias comprise many types of diseases. The most frequent autosomal recessive cerebellar ataxias are Friedreich ataxia, but other types are relatively rare. We encountered a consanguineous family with two cases of late-onset cerebellar ataxia with neuropathy. We performed whole-exome sequencing in one patient and confirmed by Sanger sequencing in other family members. Neurological examination revealed cerebellar ataxia, hand tremor, and neck dystonia, distal muscle wasting, and diminished tendon reflexes. The patients had no conjunctival telangiectasia or immunodeficiency. Blood examination revealed slightly elevated α-fetoprotein. Brain MRI demonstrated marked cerebellar atrophy and mild brainstem atrophy. The electrophysiologic study and nerve biopsy showed axonal neuropathy. Whole-exome sequencing revealed a novel homozygous missense variant (NM_000051.3: c.496G > C) in the ataxia-telangiectasia mutated gene. This homozygous variant was found in another patient, cosegregated within the family members-this variant results in aberrant splicing (skipping exon 5) on RT-PCR analysis. We identified the ataxia-telangiectasia mutated variant in an adult, late-onset autosomal recessive cerebellar ataxias family. We should consider ataxia-telangiectasia even in late-onset autosomal recessive cerebellar ataxias without telangiectasia or immunodeficiency.

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