BICD2 mutational analysis in hereditary spastic paraplegia and hereditary motor and sensory neuropathy

ABSTRACT Introduction: Mutations in the BICD2 gene are causative for an autosomal dominant form of spinal muscular atrophy (SMALED2). Further, BICD2 mutations have been implicated in hereditary spastic paraplegia (HSP), but only very few such patients have been described. In this report we aimed to...

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Published in:Muscle & nerve 2019-04, Vol.59 (4), p.484-486
Main Authors: Kropatsch, Regina, Schmidt, Helena M., Buttkereit, Pia, Epplen, Jörg T., Hoffjan, Sabine
Format: Article
Language:English
Subjects:
Adult
Atrophy
BICD2
Cohort Studies
DNA Mutational Analysis
Female
Genetic Linkage
Hereditary Sensory and Motor Neuropathy - genetics
Hereditary spastic paraplegia
high‐resolution melting analysis
HMSN
HSP
Humans
Male
Microtubule-Associated Proteins - genetics
Motors
Muscles
Mutation
Mutation, Missense - genetics
Neuromuscular diseases
Neuropathy
Paralysis
Patients
Phenotypes
SMALED2
Spastic Paraplegia, Hereditary - genetics
Spasticity
Spinal muscular atrophy
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Summary:ABSTRACT Introduction: Mutations in the BICD2 gene are causative for an autosomal dominant form of spinal muscular atrophy (SMALED2). Further, BICD2 mutations have been implicated in hereditary spastic paraplegia (HSP), but only very few such patients have been described. In this report we aimed to investigate the frequency of BICD2 mutations in patients with HSP and hereditary motor and sensory neuropathy (HMSN) who were negative for the most common known genetic causes. Methods: The cohorts comprised 171 HSP and 189 HMSN patients. Mutational analysis was performed with high‐resolution melting analysis followed by Sanger sequencing. Results: In both cohorts, we found no known or likely pathogenic mutations in the BICD2 gene. Discussion: BICD2 mutations appear rather unlikely to cause a phenotype of HMSN and are a very rare cause of the HSP phenotype. Muscle Nerve 59:484–486, 2019
ISSN:0148-639X
1097-4598
DOI:10.1002/mus.26394