Autosomal recessive cerebelloparenchymal disorder type 3
Synonyms: Autosomal recessive spinocerebellar ataxia type 2 | SCAR2
The disorders involving primarily the cerebellar parenchyma have been classified into six forms. In cerebelloparenchymal disorder III cerebellar ataxia is congenital (non-progressive) and characterized by cerebellar symptoms such as incoordination of gait often associated with poor coordination of hands speech and eye movements. The other features are congenital mental retardation and hypotonia in addition to other neurological and non-neurological features. MRI or CT scan show marked atrophy of the vermis and hemispheres. A severe loss of granule cells with heterotopic Purkinje cells is observed. The mode of inheritance in the few reported families is autosomal recessive. In one family cerebellar ataxia was associated to albinism.: In a large inbred Lebanese family the disease locus was assigned to a 12.1-cM interval on chromosome 9q34-qter between markers D9S67 and D9S312. The primary biochemical defect remains unknown. Up to now the only treatment has consisted in early interventional therapies including intensive speech therapy and adequate stimulation and/or training.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.
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Autosomal recessive cerebelloparenchymal disorder type 3?
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