" /> Spastic paraplegia 26, autosomal recessive - CISMeF





Preferred Label : Spastic paraplegia 26, autosomal recessive;

Symbol : SPG26;

CISMeF acronym : SPG26;

Type : Phenotype, molecular basis known;

Description : SPG26 is an autosomal recessive form of complicated spastic paraplegia characterized by onset in the first 2 decades of life of gait abnormalities due to lower limb spasticity and muscle weakness. Some patients have upper limb involvement. Additional features include intellectual disability, peripheral neuropathy, dysarthria, cerebellar signs, extrapyramidal signs, and cortical atrophy. The disorder is slowly progressive (summary by Boukhris et al., 2013). For a discussion of genetic heterogeneity of autosomal recessive SPG, see SPG5A (270800).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the beta-1,4-N-acetylgalactosaminyltransferase 1 gene (B4GALNT1, 601873.0001);

Prefixed ID : #609195;

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29/07/2025


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