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Autosomal recessive cerebellar ataxia
A heterogeneous group of rare neurological disorders involving both the central and peripheral nervous system (and in some cases other systems and organs), and characterized by degeneration or abnormal development of the cerebellum and spinal cord and, in most cases, early onset occurring before the age of 20 years.
ORPHA:1172Classification level: Group of disorders
- Prevalence: 1-9 / 100 000
- Inheritance: Autosomal recessive
- Age of onset: All ages
- ICD-10: -
- OMIM: -
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
This group encompasses a large number of rare diseases, the most frequent in the Caucasian population being Friedreich ataxia (estimated prevalence 2-4/100,000), ataxia-telangiectasia (1-2.5/100,000) and early onset cerebellar ataxia with retained tendon reflexes (1/100,000). Other forms ARCA are much less common.
Based on clinicogenetic criteria, five main types ARCA can be distinguished: congenital ataxias (developmental disorders), ataxias associated with metabolic disorders, ataxias with a DNA repair defect, degenerative ataxias, and ataxia associated with other features.
These diseases are caused by mutations in specific genes, some of which have been identified, such as frataxin in Friedreich ataxia, alpha-tocopherol transfer protein in ataxia with vitamin E deficiency (AVED), aprataxin in ataxia with oculomotor apraxia (AOA1), and senataxin in ataxia with oculomotor apraxia (AOA2).
Clinical diagnosis is confirmed by ancillary tests such as neuroimaging (magnetic resonance imaging, computed tomography scanning), electrophysiological examination, and mutation analysis when the causative gene has been identified. Correct clinical and genetic diagnosis is important for appropriate genetic counseling and prognosis and, in some instances, pharmacological treatment. Due to the autosomal recessive mode of inheritance, a familial history of affected individuals is unlikely.
These diseases are transmitted in an autosomal recessive manner.
Management and treatment
For most ARCA there is no specific drug treatment, except for coenzyme Q10 deficiency and abetalipoproteinemia.
- Review article
- English (2006)