Literature DB >> 12030328

A new autosomal recessive non-progressive congenital cerebellar ataxia associated with mental retardation, optic atrophy, and skin abnormalities (CAMOS) maps to chromosome 15q24-q26 in a large consanguineous Lebanese Druze Family.

Valérie Delague1, Corinne Bareil, Patrice Bouvagnet, Nabiha Salem, Eliane Chouery, Jacques Loiselet, André Mégarbané, Mireille Claustres.   

Abstract

Congenital cerebellar ataxias are a heterogeneous group of non-progressive disorders characterized by hypotonia and developmental delay followed by the appearance of ataxia, and often associated with dysarthria, mental retardation, and atrophy of the cerebellum. We report the mapping of a disease gene in a large inbred Lebanese Druze family, with five cases of a new form of non-progressive autosomal recessive congenital ataxia associated with optic atrophy, severe mental retardation, and structural skin abnormalities, to a 3.6-cM interval on chromosome 15q24-15q26.

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Year:  2002        PMID: 12030328     DOI: 10.1007/s10048-001-0127-z

Source DB:  PubMed          Journal:  Neurogenetics        ISSN: 1364-6745            Impact factor:   2.660


  8 in total

1.  CAMOS, a nonprogressive, autosomal recessive, congenital cerebellar ataxia, is caused by a mutant zinc-finger protein, ZNF592.

Authors:  Elsa Nicolas; Yannick Poitelon; Eliane Chouery; Nabiha Salem; Nicolas Levy; André Mégarbané; Valérie Delague
Journal:  Eur J Hum Genet       Date:  2010-06-09       Impact factor: 4.246

2.  Cerebellar hypoplasia and quadrupedal locomotion in humans as a recessive trait mapping to chromosome 17p.

Authors:  S Türkmen; O Demirhan; K Hoffmann; A Diers; C Zimmer; K Sperling; S Mundlos
Journal:  J Med Genet       Date:  2005-12-21       Impact factor: 6.318

Review 3.  In Silico Functional Annotation of Genomic Variation.

Authors:  Mariusz Butkiewicz; William S Bush
Journal:  Curr Protoc Hum Genet       Date:  2016-01-01

4.  WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease.

Authors:  Julia Vodopiutz; Rainer Seidl; Daniela Prayer; M Imran Khan; Johannes A Mayr; Berthold Streubel; Jens-Oliver Steiß; Andreas Hahn; Dagmar Csaicsich; Christel Castro; Mirna Assoum; Thomas Müller; Dagmar Wieczorek; Grazia M S Mancini; Carolin E Sadowski; Nicolas Lévy; André Mégarbané; Koumudi Godbole; Denny Schanze; Friedhelm Hildebrandt; Valérie Delague; Andreas R Janecke; Martin Zenker
Journal:  Hum Mutat       Date:  2015-08-06       Impact factor: 4.878

5.  PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia.

Authors:  Rebekah K Jobling; Mirna Assoum; Oleksandr Gakh; Susan Blaser; Julian A Raiman; Cyril Mignot; Emmanuel Roze; Alexandra Dürr; Alexis Brice; Nicolas Lévy; Chitra Prasad; Tara Paton; Andrew D Paterson; Nicole M Roslin; Christian R Marshall; Jean-Pierre Desvignes; Nathalie Roëckel-Trevisiol; Stephen W Scherer; Guy A Rouleau; André Mégarbané; Grazia Isaya; Valérie Delague; Grace Yoon
Journal:  Brain       Date:  2015-03-25       Impact factor: 13.501

Review 6.  A Proposed Clinical Classification and a Diagnostic Approach for Congenital Ataxias.

Authors:  Ivana Rocha Raslan; Orlando G Barsottini; José Luiz Pedroso
Journal:  Neurol Clin Pract       Date:  2021-06

7.  Nuclear-mitochondrial proteins: too much to process?

Authors:  Rita Horvath; Patrick F Chinnery
Journal:  Brain       Date:  2015-06       Impact factor: 13.501

Review 8.  Extending the ophthalmological phenotype of Galloway-Mowat syndrome with distinct retinal dysfunction: a report and review of ocular findings.

Authors:  Maha A Al-Rakan; Manal D Abothnain; Muhammad T Alrifai; Majid Alfadhel
Journal:  BMC Ophthalmol       Date:  2018-06-22       Impact factor: 2.209

  8 in total

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