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Clinics and Practice
Volume 8
Issue 3
10.4081/cp.2018.1071
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Clinics and Practice is published by MDPI from Volume 11 Issue 1 (2021). Previous articles were published by another publisher in Open Access under a CC-BY (or CC-BY-NC-ND) licence, and they are hosted by MDPI on mdpi.com as a courtesy and upon agreement with PAGEPress.
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Case Report

SYNE1-related Autosomal Recessive Cerebellar Ataxia, Congenital Cerebellar Hypoplasia, and Cognitive Impairment

by
Lauren Swan
1,
John Cardinal
2 and
David Coman
1,2,3,4,5,6,*
1
Department of Paediatrics, Wesley Hospital, Brisbane, Australia
2
Advanced Medical Diagnostics, Brisbane, Australia
3
Neuroscience Department, Lady Cilento Children’s Hospital, Brisbane, Australia
4
UnitingCare Clinical School, Wesley Hospital Brisbane, Brisbane, Australia
5
School of Medicine, Griffith University, Gold Coast, Australia
6
School of Medicine, University of Queensland, Brisbane, Australia
*
Author to whom correspondence should be addressed.
Clin. Pract. 2018, 8(3), 1071; https://doi.org/10.4081/cp.2018.1071
Submission received: 25 February 2018 / Revised: 25 February 2018 / Accepted: 22 June 2018 / Published: 27 August 2018

Abstract

The spectrin repeat-containing nuclear envelope protein 1 (SYNE1) gene encodes a family of spectrin structural proteins that are associated with anchoring the plasma membrane to the actin cytoskeleton. SYNE1-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 SYNE1 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 SYNE1 gene. Our family may expand the clinical phenotype associated with SYNE1-related disease and offers possible genotype-phenotype correlations of a rare continuum of clinical disease phenotypes from neonatal to adult onset.
Keywords: congenital cerebellar hypoplasia; developmental delay; ataxia; spectrin repeatcontaining nuclear envelope protein 1 congenital cerebellar hypoplasia; developmental delay; ataxia; spectrin repeatcontaining nuclear envelope protein 1

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MDPI and ACS Style

Swan, L.; Cardinal, J.; Coman, D. SYNE1-related Autosomal Recessive Cerebellar Ataxia, Congenital Cerebellar Hypoplasia, and Cognitive Impairment. Clin. Pract. 2018, 8, 1071. https://doi.org/10.4081/cp.2018.1071

AMA Style

Swan L, Cardinal J, Coman D. SYNE1-related Autosomal Recessive Cerebellar Ataxia, Congenital Cerebellar Hypoplasia, and Cognitive Impairment. Clinics and Practice. 2018; 8(3):1071. https://doi.org/10.4081/cp.2018.1071

Chicago/Turabian Style

Swan, Lauren, John Cardinal, and David Coman. 2018. "SYNE1-related Autosomal Recessive Cerebellar Ataxia, Congenital Cerebellar Hypoplasia, and Cognitive Impairment" Clinics and Practice 8, no. 3: 1071. https://doi.org/10.4081/cp.2018.1071

APA Style

Swan, L., Cardinal, J., & Coman, D. (2018). SYNE1-related Autosomal Recessive Cerebellar Ataxia, Congenital Cerebellar Hypoplasia, and Cognitive Impairment. Clinics and Practice, 8(3), 1071. https://doi.org/10.4081/cp.2018.1071

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