Spinocerebellar Degenerations
| Definition: |
A heterogenous group of degenerative syndromes marked by progressive cerebellar dysfunction either in isolation or combined with other neurologic manifestations. Sporadic and inherited subtypes occur. Inheritance patterns include autosomal dominant, autosomal recessive, and X-linked. |
| Also Called: |
Ataxias, Hereditary,Cerebellar Ataxia, Early Onset,Cerebellar Ataxia, Late Onset,Cerebellar Degenerations, Primary,Corticostriatal-Spinal Degeneration,Marie Cerebellar Ataxia,Marinesco-Sjogren Syndrome |
| Previously Indexed: |
Cerebellar Ataxia (1968-1986),Cerebellar Diseases (1966-1986),Spinal Cord Diseases (1966-1986) |
Spinocerebellar Degenerations Categories.
 |
Friedreich Ataxia - An autosomal recessive disease, usually of childhood onset, characterized pathologically by degeneration of the spinocerebellar tracts, posterior columns, and to a lesser extent the corticospinal tracts. Clinical manifestations include GAIT ATAXIA, pes cavus, speech impairment, lateral curvature of spine, rhythmic head tremor, kyphoscoliosis, congestive heart failure (secondary to a cardiomyopathy), and lower extremity weakness. Most forms of this condition are associated with a mutation in a gene on chromosome 9, at band q13, which codes for the mitochondrial protein frataxin. (From Adams et al., Principles of Neurology, 6th ed, p1081; N Engl J Med 1996 Oct 17;335(16):1169-75) The severity of Friedreich ataxia associated with expansion of GAA repeats in the first intron of the frataxin gene correlates with the number of trinucleotide repeats. (From Durr et al, N Engl J Med 1996 Oct 17;335(16):1169-75) |
|
Myoclonic Cerebellar Dyssynergia - A condition marked by progressive CEREBELLAR ATAXIA combined with MYOCLONUS usually presenting in the third decade of life or later. Additional clinical features may include generalized and focal SEIZURES, spasticity, and DYSKINESIAS. Autosomal recessive and autosomal dominant patterns of inheritance have been reported. Pathologically, the dentate nucleus and brachium conjunctivum of the CEREBELLUM are atrophic, with variable involvement of the spinal cord, cerebellar cortex, and basal ganglia. (From Joynt, Clinical Neurology, 1991, Ch37, pp60-1) |
|
Spinocerebellar Ataxias - A group of dominantly inherited, predominantly late-onset, cerebellar ataxias which have been divided into multiple subtypes based on clinical features and genetic mapping. Progressive ataxia is a central feature of these conditions, and in certain subtypes POLYNEUROPATHY; DYSARTHRIA; visual loss; and other disorders may develop. (From Joynt, Clinical Neurology, 1997, Ch65, pp 12-17; J Neuropathol Exp Neurol 1998 Jun;57(6):531-43) |
Spinocerebellar Degenerations Definitions and Terms
MedicalGlossary.org is designed as a free, browsable resource for all. The medical terms and definitions are not intended to replace medical informaion provided by licensed healthcare professionals. Please see a doctor if you need medical assistance. Don't see the medical term you were researching? Send us an e-mail from our "about us" page. We will do our best to research and classify new medical terms in a timely manner. Our current list of medical terms is over 26,000. Data sources include the U.S. National Library of Medicine, 2004 Medical Subject Headings.
|
