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Article

Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis.

Journal of neurology - 1 Feb 2014

Citterio Andrea, Arnoldi Alessia, Panzeri Elena, D'Angelo Maria Grazia, Filosto Massimiliano, Dilena Robertino, Arrigoni Filippo, Castelli Marianna, Maghini Cristina, Germiniasi Chiara, Menni Francesca, Martinuzzi Andrea, Bresolin Nereo, Bassi Maria Teresa

Abstract excerpt

Complicated hereditary spastic paraplegias (HSP) are a heterogeneous group of HSP characterized by spasticity associated with a variable combination of neurologic and extra-neurologic signs and symptoms. Among them, HSP with thin corpus callosum and intellectual disability is a frequent subtype, often inherited as a recessive trait (ARHSP-TCC). Within this heterogeneous subgroup, SPG11 and SPG15 represent the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24337409
DOI: 10.1007/s00415-013-7206-6

Genes

GBA2
DDHD2
SPG11

Variants

Provenance

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Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis.PMID 24337409Read ↗

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