BICD2 mutational analysis in hereditary spastic paraplegia and hereditary motor and sensory neuropathy. Issue 4 (21st December 2018)

• Record Type: Journal Article
• Authors: Kropatsch, Regina; Schmidt, Helena M.; Buttkereit, Pia; Epplen, Jörg T.; Hoffjan, Sabine
• Is Part Of: Muscle & nerve. Volume 59:Issue 4(2019)
• Page Start: 484
• Page End: 486
• Publication Date: 2018-12-21
• Subjects: BICD2 -- HMSN -- HSP -- SMALED2 -- high‐resolution melting analysis; Neuromuscular diseases -- Periodicals; Muscles -- Periodicals; Nerves -- Periodicals; 616.74
• DOI: 10.1002/mus.26394
• Languages: English
• ISSNs: 0148-639X

Abstract

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