M B Hammer1,2, G Eleuch-Fayache1, J R Gibbs2,3, S K Arepalli2, S B Chong2, C Sassi2,3, Y Bouhlal4, F Hentati1, R Amouri1, A B Singleton2. 1. Department of Molecular Neurobiology and Neuropathology, National Institute of Neurology, La Rabta, Tunis, Tunisia. 2. Molecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA. 3. Reta Lilla Weston Laboratories and Departments of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London, UK. 4. Institute of Human Genetics, UCSF, San Francisco, CA, USA.
Abstract
BACKGROUND AND PURPOSE: Autosomal recessive cerebellar ataxia (ARCA) comprises a large and heterogeneous group of neurodegenerative disorders. We studied three families diagnosed with ARCA. METHODS: To determine the gene lesions responsible for their disorders, we performed high-density single-nucleotide polymorphism genotyping and exome sequencing. RESULTS: We identified a new mutation in the SACS gene and a known mutation in SPG11. Notably, we also identified a homozygous variant in APOB, a gene previously associated with ataxia. CONCLUSIONS: These findings demonstrate that exome sequencing is an efficient and direct diagnostic tool for identifying the causes of complex and genetically heterogeneous neurodegenerative diseases, early-stage disease or cases with limited clinical data. Published 2012. This article is a U.S. Government work and is in the public domain in the USA. European Journal of Neurology
BACKGROUND AND PURPOSE:Autosomal recessive cerebellar ataxia (ARCA) comprises a large and heterogeneous group of neurodegenerative disorders. We studied three families diagnosed with ARCA. METHODS: To determine the gene lesions responsible for their disorders, we performed high-density single-nucleotide polymorphism genotyping and exome sequencing. RESULTS: We identified a new mutation in the SACS gene and a known mutation in SPG11. Notably, we also identified a homozygous variant in APOB, a gene previously associated with ataxia. CONCLUSIONS: These findings demonstrate that exome sequencing is an efficient and direct diagnostic tool for identifying the causes of complex and genetically heterogeneous neurodegenerative diseases, early-stage disease or cases with limited clinical data. Published 2012. This article is a U.S. Government work and is in the public domain in the USA. European Journal of Neurology
Authors: Monia B Hammer; Jinhui Ding; Fanny Mochel; Ghada Eleuch-Fayache; Perrine Charles; Marie Coutelier; J Raphael Gibbs; Sampath K Arepalli; Sean B Chong; Dena G Hernandez; Elisa Majounie; Steven Clipman; Yosr Bouhlal; Houda Nehdi; Alexis Brice; Faycal Hentati; Giovanni Stevanin; Rim Amouri; Alexandra Durr; Andrew B Singleton Journal: Neurodegener Dis Date: 2017-05-31 Impact factor: 2.977
Authors: Pawel Tacik; Kimberly J Guthrie; Audrey J Strongosky; Daniel F Broderick; Douglas L Riegert-Johnson; Sha Tang; Dima El-Khechen; Alexander S Parker; Owen A Ross; Zbigniew K Wszolek Journal: Mayo Clin Proc Date: 2015-02-03 Impact factor: 7.616