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Spinocerebellar ataxia type 31: A clinical and radiological literature review by Jacob Saucier; Mohammad Al-Qadi; Mouna Ben Amor; Kinya Ishikawa; Ludivine Chamard-Witkowski is a Medicine article available to read on EtoBox.

What is Spinocerebellar ataxia type 31: A clinical and radiological literature review about?

Spinocerebellar ataxia type 31 (SCA31) is an autosomal dominant disease, classified amongst pure cerebellar ataxias (ADCA type 3). While SCA31 is the third most prevalent autosomal dominant ataxia in Japan, it is extremely rare in other countries. A literature review was conducted on PubMed, where we included all case reports and studies describing the clinical presentation of original SCA31 cases. The clinical and radiological features of 374 patients issued from 25 studies were collected. This review revealed that the average age of onset was 59.1 ± 3.3 years, with symptoms of slowly progressing ataxia and dysarthria. Other common clinical features were oculomotor dysfunction (38.8%), dysphagia (22.1%), hypoacousia (23.3%), vibratory hypoesthesia (24.3%), and dysreflexia (41.6%). Unfrequently, abnormal movements (7.4%), extrapyramidal symptoms (4.5%) and cognitive impairment (6.9%) may be observed. Upon radiological examination, clinicians can expect a high prevalence of cerebellar atrophy (78.7%), occasionally accompanied by brainstem (9.1%) and cortical (9.1%) atrophy. Although SCA31 is described as a slowly progressive pure cerebellar syndrome characterized by cerebellar signs

Who reads Spinocerebellar ataxia type 31: A clinical and radiological literature review?

Author

Jacob Saucier; Mohammad Al-Qadi; Mouna Ben Amor; Kinya Ishikawa; Ludivine Chamard-Witkowski

Publisher

Elsevier BV

Published

2023

Language

EN

Field

Medicine (Health Sciences)