SYNE1 -related autosomal recessive cerebellar ataxia, congenital cerebellar hypoplasia, and cognitive impairment

• Published in: Clinics and practice Vol. 8; no. 3; p. 1071
• Main Authors: Swan, Lauren, Cardinal, John, Coman, David
• Format: Journal Article
• Language: English
• Published: Italy PAGEPress Publications, Pavia, Italy 27.08.2018; MDPI AG
• Subjects: ataxia; Case Report; congenital cerebellar hypoplasia; developmental delay; SYNE1; Ataxia; Congenital cerebellar hypoplasia; Developmental delay; Spectrin repeatcontaining nuclear envelope protein 1
• ISSN: 2039-7275; 2039-7283; 2039-7283
• DOI: 10.4081/cp.2018.1071

The spectrin repeat-containing nuclear envelope protein 1 ( ) gene encodes a family of spectrin structural proteins that are associated with anchoring the plasma membrane to the actin cytoskeleton. -related disease is most commonly reported in autosomal recessive spinocerebellar ataxia 8, which demonstrates variable age of onset with a median of 30 years of age. However pathogenic mutations in are also causative of arthrogryposis multiplex congenital, a severe congenital neuromuscular condition. Here in we report monozygous twins with childhood onset ataxia, cerebellar hypoplasia, dysarthria, and cognitive impairment sharing two novel heterozygous mutations in the gene. Our family may expand the clinical phenotype associated with -related disease and offers possible genotype-phenotype correlations of a rare continuum of clinical disease phenotypes from neonatal to adult onset.