Tremor-ataxia with central hypomyelination (TACH) leukodystrophy maps to chromosome 10q22.3-10q23.31.

Neurogenetics
Geneviève BernardBernard Brais

Abstract

Leukodystrophies are a heterogeneous group of disorders associated with abnormal central nervous system white matter. The clinical features invariably include upper motor neuron signs and developmental regression with or without other neurological manifestations. The objective of this study was to characterize clinically and genetically a new form of childhood-onset leukodystrophy with ataxia and tremor. We recruited seven French-Canadian cases belonging to five families affected by an unknown form of childhood-onset leukodystrophy. Genome-wide scans (GWS) were performed using the Illumina Hap310 or Hap610 Bead Chip to identify regions of shared homozygosity that were further studied for linkage with STS markers. All cases presented between the ages of 1 and 5 years with spasticity along with other upper motor neuron signs, prominent postural tremor, and cerebellar signs. Though motor regression is a constant feature, cognitive functions are relatively preserved, even late in the course of the disease. The higher frequency of founder diseases in the French-Canadian population and the segregation in pedigrees are suggestive of a recessive mode of inheritance. By homozygosity mapping, we established linkage to a 12.6-Mb SNP-haplo...Continue Reading

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Citations

Mar 6, 2012·The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques·Martine TétreaultGeneviève Bernard
Aug 24, 2013·Rinshō shinkeigaku = Clinical neurology·Asako TamuraHirotomo Saitsu
Oct 1, 2011·Expert Review of Neurotherapeutics·Alfried Kohlschütter, Florian Eichler
May 7, 2013·Brain & Development·Jun-ichi TakanashiA James Barkovich
Jun 12, 2014·Annals of Neurology·Petra J W PouwelsA James Barkovich
Dec 18, 2012·Journal of Neuropathology and Experimental Neurology·Adeline VanderverRaphael Schiffmann
Jun 27, 2015·Case Reports in Endocrinology·Emma BillingtonBernard Corenblum
Nov 1, 2011·American Journal of Human Genetics·Martine TétreaultGeneviève Bernard
Apr 1, 2016·Neurology·Roberta La PianaGeneviève Bernard
Aug 11, 2016·Human Molecular Genetics·Dimitar N AzmanovAleksandra Filipovska
Dec 5, 2012·Movement Disorders : Official Journal of the Movement Disorder Society·Bradley OstermanGeneviève Bernard
Oct 10, 2013·Journal of Child Neurology·Roberta La PianaAdeline Vanderver
Dec 12, 2017·Brain : a Journal of Neurology·Laurence GauquelinGeneviève Bernard
Mar 7, 2019·Movement Disorders Clinical Practice·Ghalia Al YazidiGeneviève Bernard
Aug 23, 2011·The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques·M TétreaultB Brais
Feb 27, 2021·Frontiers in Cellular Neuroscience·Stefanie PerrierGeneviève Bernard
Apr 4, 2021·International Journal of Molecular Sciences·Ana Ching-LópezPurificacion Gutierrez-Ríos
Aug 17, 2021·Frontiers in Molecular Biosciences·Elisabeth LataMartin Teichmann

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