Friedreich's ataxia and other autosomal recessive ataxias

doi:10.1017/CBO9780511544873.049

48 - Friedreich's ataxia and other autosomal recessive ataxias

from Part VIII - Cerebellar degenerations

Published online by Cambridge University Press: 04 August 2010

Anthony E. Lang and

Hélène Puccio and

M. Flint Beal: Affiliation:
Cornell University, New York
Anthony E. Lang: Affiliation:
University of Toronto
Albert C. Ludolph: Affiliation:
Universität Ulm, Germany
Hélène Puccio: Affiliation:
Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), CNRS/INSERM/Université Louis Pasteur, Hôpitaux Universitaires de Strasbourg, France
Michel Koenig: Affiliation:
Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), CNRS/INSERM/Université Louis Pasteur, Hôpitaux Universitaires de Strasbourg, France

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Summary

Autosomal recessive neurodegenerative ataxias are classified according to the major site of degeneration, which can be the cerebellum or the spinal cord. In the latter case, affection of the posterior columns and of spinocerebellar tracts leads to sensory (proprioceptive) and cerebellar ataxia. A third group of affections recently identified associates cerebellar degeneration and sensorimotor peripheral neuropathy, therefore resulting in sensory and cerebellar ataxia associated with neuromuscular weakness. The first group is dominated by ataxia-telangiectasia (A-T), where cerebellar atrophy is associated with immune deficiency and susceptibility to develop malignancies. Ataxia-telangiectasia and related disorders will be developed in the following chapter. Another member of the first group is spastic ataxia of the Charlevoix–Saguenay region (ARSACS). The second group is dominated by Friedreich's ataxia (FRDA), recognized since the XIXth century. Rare forms of spinal cord ataxias include the inherited vitamin E deficiencies (isolated vitamin E deficiency (AVED) and abetalipoproteinemia (ABL)), Refsum disease (RD), infantile onset spinocerebellar ataxia (IOSCA), and ataxia + blindness + deafness (SCABD). The group of cerebellar atrophy with sensorimotor neuropathy (third group) comprises only very recently identified conditions, such as ataxia + oculomotor apraxia, forms 1 and 2 (AOA1 and AOA2) and spinocerebellar ataxia + neuropathy (SCAN1). All advances on the delineation of the rare forms of recessive ataxias were made thanks to the development of positional cloning strategies based on homozygosity mapping of consanguineous families and on the development of the human genome project.

Type: Chapter
Information: Neurodegenerative Diseases
Neurobiology, Pathogenesis and Therapeutics
, pp. 719 - 737

DOI: https://doi.org/10.1017/CBO9780511544873.049 [Opens in a new window]

Publisher: Cambridge University Press

Print publication year: 2005

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