Erschienen in:
01.12.2017 | Short Report
Neurocognitive Characterization of an SCA28 Family Caused by a Novel AFG3L2 Gene Mutation
verfasst von:
Laszlo Szpisjak, Viola L. Nemeth, Noemi Szepfalusi, Denes Zadori, Zoltan Maroti, Tibor Kalmar, Laszlo Vecsei, Peter Klivenyi
Erschienen in:
The Cerebellum
|
Ausgabe 5-6/2017
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Excerpt
Autosomal, dominantly inherited spinocerebellar ataxias (SCAs) are a continuously expanding, clinically and genetically heterogeneous group of neurological disorders. Prevalence of the autosomal dominant cerebellar ataxias (ADCAs) is estimated to be approximately 1–5:100,000 population [
1,
2]. The main neurological symptoms are gait and limb ataxia and dysarthria, accompanied by additional neurological signs, which are variable and often overlapping within the subtypes of the group. The characteristic cognitive abnormalities are executive dysfunction and visuospatial disability in the most common SCAs (SCA1, 2, and 3) [
3,
4]. The genetic diversity of SCAs comprises trinucleotide repeat expansions (SCA1, 2, 3, 6, 7, 8, 12, 17, and dentatorubral-pallidoluysian atrophy), pentanucleotide repeat expansions (SCA10 and 31), hexanucleotide repeat expansions (SCA36), and conventional mutations (SCA5, 11, 13, 14, 15/16, 18, 19/22, 21, 23, 26, 27, 28, 29, 34, 35, 38, and 40), whereas the responsible gene has not yet been identified in some forms of SCAs (SCA4, 20, 25, 30, 32, and 37) [
5]. …