Article
Autosomal dominant cerebellar ataxia with retinal degeneration (ADCA II): clinical and neuropathological findings in two pedigrees and genetic linkage to 3p12-p21.1.
Journal of neurology, neurosurgery, and psychiatry - 1 Apr 1997
Jöbsis G J, Weber J W, Barth P G, Keizers H, Baas F, van Schooneveld M J, van Hilten J J, Troost D, Geesink H H, Bolhuis P A
Abstract excerpt
OBJECTIVES: To investigate relations between clinical and neuropathological features and age of onset, presence of anticipation, and genetic linkage in autosomal dominant cerebellar ataxia type II (ADCA II). METHODS: The natural history of ADCA II was studied on the basis of clinical and neuropathological findings in two pedigrees and genetic linkage studies were carried out with polymorphic DNA markers in the...
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