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GENATLAS PHENOTYPE

last update : 19-10-2016

Symbol	NADGP
Location	5q35.3
Name	neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
Corresponding gene	SQSTM1
Main clinical features	childhood-onset neurodegeneration with ataxia, dystonia, and gaze palsy characterized by onset of gait ataxia, cognitive decline, and gaze palsy in the first or second decades additional features include dysarthria, dystonia, and athetoid movements; some patients may become wheelchair-bound as young adults brain imaging showed cerebellar atrophy in any cases
Genetic determination	autosomal recessive
Function/system disorder	neurology
Type	disease

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