Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia.

doi:10.1016/j.ajhg.2013.04.018

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Article

Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia.

American journal of human genetics - 6 Jun 2013

Oates Emily C, Rossor Alexander M, Hafezparast Majid, Gonzalez Michael, Speziani Fiorella, MacArthur Daniel G, Lek Monkol, Cottenie Ellen, Scoto Mariacristina, Foley A Reghan, Hurles Matthew, Houlden Henry, Greensmith Linda, Auer-Grumbach Michaela, Pieber Thomas R, Strom Tim M, Schule Rebecca, Herrmann David N, Sowden Janet E, Acsadi Gyula, Menezes Manoj P, Clarke Nigel F, Züchner Stephan, Muntoni Francesco, North Kathryn N, Reilly Mary M

Abstract excerpt

Dominant congenital spinal muscular atrophy (DCSMA) is a disorder of developing anterior horn cells and shows lower-limb predominance and clinical overlap with hereditary spastic paraplegia (HSP), a lower-limb-predominant disorder of corticospinal motor neurons. We have identified four mutations in bicaudal D homolog 2 (Drosophila) (BICD2) in six kindreds affected by DCSMA, DCSMA with upper motor neuron features,...

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Identifiers

PMID: 23664120
DOI: 10.1016/j.ajhg.2013.04.018
PMCID: PMC3675232

Genes

BICD2

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Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia.PMID 23664120Read ↗

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Dominant spinal muscular atrophy due to BICD2: a novel mutation refines the phenotype.Semantic proximity Read ↗

Loss of BICD2 in muscle drives motor neuron loss in a developmental form of spinal muscular atrophySemantic proximity Read ↗

Dominant spinal muscular atrophy linked mutations in the cargo binding domain of BICD2 result in altered interactomes and dynein hyperactivitySemantic proximity Read ↗

Autosomal dominant spinal muscular atrophy with lower extremity predominance: A recognizable phenotype of BICD2 mutations.Semantic proximity Read ↗

A case of severe autosomal dominant spinal muscular atrophy with lower extremity predominance caused by a de novo BICD2 mutation.Semantic proximity Read ↗

Expanding the phenotype of BICD2 mutations toward skeletal muscle involvement.Semantic proximity Read ↗

Novel insights into SMALED2: BICD2 mutations increase microtubule stability and cause defects in axonal and NMJ development.Semantic proximity Read ↗

Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy.Semantic proximity Read ↗

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