PLZEŇSKÝ LÉKAŘSKÝ SBORNÍK
PLZEŇSKÝ LÉKAŘSKÝ SBORNÍK
A multi-disciplinary medical journal publishing scientific works from theoretical and clinical fields with English summaries as well as works by foreign contributors in English. The chapter "Faculty Life" offers personal messages, reports on the faculty's activities in the past year and presents a complete bibliography of the medical faculty's departments and clinics in the year. The journal has been published since 1956.

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PLZEŇSKÝ LÉKAŘSKÝ SBORNÍK, Vol 2018 No 84 (2018), 55–62

Autosomálně dominantní spinocerebelární ataxie: Review

[Autosomal dominant spinocerebellar ataxias: Review]

K. Krakorová, M. Čedíková, J. Polívka

published online: 12. 12. 2018

abstract

The hereditary ataxias are highly heterogenous group of diseases with typical phenotype, including gait ataxia, often accompanied by uncoordinated movements of the eyes, hands, speech disorders and cerebellar atrophy. They can be subdivided into subgroups according to their inheritance on autosomal dominant, autosomal recessive, X-linked or mitochondrial hereditary, then by gene mutation of chromosomal locus. This review article discusses in more detail the group of autosomal dominant spinocerebellar ataxias.

157 x 230 mm
periodicity: 1 x per year
ISSN: 0551-1038