Autosomal recessive spastic paraplegia type 46

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Autosomal recessive spastic paraplegia type 46

Synonyms: SPG46

Autosomal recessive spastic paraplegia type 46 (SPG46) is a rare complex type of hereditary spastic paraplegia characterized by an onset in infancy or childhood of the typical signs of spastic paraplegia (i.e. spastic gait and weakness of the lower limbs) associated with a variety of additional manifestations including upper limb spasticity and weakness pseudobulbar dysarthria bladder dysfunction cerebellar ataxia cataracts and cognitive impairment that can progress to dementia. Brain imaging may show thinning of the corpus callosum and mild atrophy of the cerebrum and cerebellum. SPG46 is due to mutations in the GBA2 gene (9p13.2) encoding non-lysosomal glucosylceramidase.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version April 2024

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Autosomal recessive spastic paraplegia type 46?

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Genetic Support Network of Victoria

The Genetic Support Network of Victoria is an organisation that supports people living with genetic, undiagnosed and rare conditions and those who support them including community and families, patient support organisations, health professionals and industry. Our vision is our community flourishing and living their best lives.

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