Spastic Ataxia 1, Autosomal Dominant (SPAX1)

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OMIM 57 108600 PS108600 MeSH 44 D002524 ICD10 via Orphanet 34 G11.4 UMLS via Orphanet 73 C1970107

Orphanet 59 ORPHA251282 MedGen 42 C1970107 UMLS 72 C1970107

OMIM : ⁵⁷ Hereditary spastic ataxia comprises a heterogeneous group of progressive neurodegenerative disorders characterized by lower-limb spasticity and generalized ataxia with dysarthria, impaired ocular movements, and gait disturbance. Spastic ataxia-1 (SPAX1) is an autosomal dominant form of the disorder with onset between the ages of 10 and 20 years. Other clinical features are supranuclear gaze palsy, hyperreflexia, hypertonicity, dystonia, pes cavus, mild ptosis, and decreased vibration sense in the lower limbs. Symptom severity is variable, but neither lipfe span nor cognition is affected (summary by Meijer et al., 2002 and Bourassa et al., 2012). (108600)

MalaCards based summary : Spastic Ataxia 1, Autosomal Dominant, also known as ataxia, spastic, 1, autosomal dominant, is related to spastic ataxia 2, autosomal recessive and spastic ataxia 5, autosomal recessive, and has symptoms including memory loss and cerebellar ataxia. An important gene associated with Spastic Ataxia 1, Autosomal Dominant is VAMP1 (Vesicle Associated Membrane Protein 1). Affiliated tissues include eye, and related phenotypes are hyperreflexia and supranuclear gaze palsy

UniProtKB/Swiss-Prot : ⁷⁴ Spastic ataxia 1, autosomal dominant: An autosomal dominant form of spastic ataxia, a progressive neurodegenerative disorder characterized by lower-limb spasticity and generalized ataxia with dysarthria, impaired ocular movements, and gait disturbance.

Clinical features from OMIM:

108600

Search Clinical Trials , NIH Clinical Center for Spastic Ataxia 1, Autosomal Dominant

Search GEO for disease gene expression data for Spastic Ataxia 1, Autosomal Dominant.