Spinocerebellar Ataxia 7 – a Case Report

Česká verze

Authors: V. Majerová ¹; Z. Mušová ²; A. Zumrová ³; E. Růžička ¹; J. Roth ¹
Authors place of work: Neurologická klinika a Centrum klinických neurověd, UK v Praze, 1. LF a VFN v Praze ¹; Ústav biologie a lékařské genetiky 2. LF UK a FN v Motole a Centrum hereditárních ataxií FN v Motole, Praha ²; Klinika dětské neurologie 2. LF UK a FN v Motole a Centrum hereditárních ataxií FN v Motole, Praha ³
Published in the journal: Cesk Slov Neurol N 2013; 76/109(2): 225-228
Category: Kazuistika

Summary

Spinocerebellar ataxia 7 (SCA7) is a rare autosomal dominant neurodegenerative disorder caused by expansion of an unstable CAG triplet repeats encoding the polyglutamine chain in the corresponding protein, ataxin-7 on the 3rd chromosome. Typical clinical signs include cerebellar syndrome and visual impairment due to progressive macular dystrophy. In the Czech Republic, 1 case only of SCA7 has been diagnosed so far. The following case report presents a case of a 48 years old male patient with slow progression of typical signs of SCA7, except for retinal degeneration. The first symptom, visual disturbance, developed 15 years ago, followed later by balance and coordination disorder. At the age of 48 years, visual impairment remains the main complaint. During neurological examination, we identified mild cerebellar and pyramidal syndrome. The patient’s mother died at the age of 65 years from an unknown neuropsychiatric disorder. Due to the rare occurrence of this disease, SCA7 in our patient was initially not considered as part of differential diagnosis and the delay between the first neurological examination and the diagnosis was almost 8 years.

Key words:
spinocerebellar ataxia – cerebellar syndrome – retinal degeneration

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