DNMT1-complex disorder caused by a novel mutation associated with an overlapping phenotype of autosomal-dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN) and hereditary sensory neuropathy with dementia and hearing loss (HSN1E)
Sign Up to like & getrecommendations! Published in 2019 at "Neurological Sciences"
DOI: 10.1007/s10072-019-03859-7
Abstract: Dear Sir, Autosomal dominant cerebellar ataxias (ADCA) are a group of heterogeneous clinical conditions characterized by frequent association of progressive ataxia with a plethora of different neurological symptoms. They can underlie a broad genetic background… read more here.
Keywords: dominant cerebellar; cerebellar ataxia; ataxia; hearing ... See more keywords
A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies
Sign Up to like & getrecommendations! Published in 2017 at "Brain"
DOI: 10.1093/brain/awx081
Abstract: Autosomal dominant cerebellar ataxias have a marked heterogeneous genetic background, with mutations in 34 genes identified so far. This large amount of implicated genes accounts for heterogeneous clinical presentations, making genotype-phenotype correlations a major challenge… read more here.
Keywords: dominant cerebellar; ataxias; frequency; ataxia ... See more keywords