" /> Spastic paraplegia 30a, autosomal dominant - CISMeF





Preferred Label : Spastic paraplegia 30a, autosomal dominant;

Symbol : SPG30A;

CISMeF acronym : SPG30;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : SPG30; Spastic paraplegia 30;

Description : SPG30 is an autosomal recessive form of slowly progressive spastic paraplegia characterized by onset in the first or second decades of unsteady spastic gait and hyperreflexia of the lower limbs. Mildly impaired sensation and cerebellar involvement has been reported in 1 putatively affected family (summary by Erlich et al., 2011).;

Inheritance : Autosomal recessive; Autosomal dominant;

Molecular basis : Caused by mutation in the kinesin family member 1A gene (KIF1A, 601255.0001);

Prefixed ID : #610357;

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03/05/2025


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