spinocerebellar ataxia

(redirected from Spinocerebellar ataxias)

spi·no·cer·e·bel·lar a·tax·i·a

a generic term now increasingly used to describe autosomal dominant-inherited ataxias that have a progressive course. The terminology is regulated by the human genome organization, and each new gene locus, when found, is indicated by "SCA" followed by a number. Currently, at least 23 distinct types have been reported (SCA1-SCA23). All types closely resemble one another clinically and usually cannot be distinguished by phenotype alone. Pathologically, all types are caused by a variable combination of nerve cell loss in the cerebellum, basis pontis, olivary nuclei, substantia nigra anterior horns, and in the posterior thoracic nucleus. Formerly, diseases in this group were usually labeled "Marie ataxia" or "olivopontocerebellar atrophies." SCA3 is now known as Machado-Joseph disease. Many of these disorders are due to expansions of the CAG sequence in various genes on various chromosomes, including chromosome 3p, 6p, 20p, 5q, 6q, 7q, 8q, 11q, 12q, 15q, 19q, and 22q.

spinocerebellar ataxia

A clinically and genetically heterogeneous group of cerebellar disorders, which is characterised by progressive incoordination of gait and often poor co-ordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord.

spi·no·cer·e·bel·lar a·tax·i·a

(spī'nō-ser'ĕ-bĕl'lăr ă-tak'sē-ă)
The most common hereditary ataxia, with onset in middle to late childhood, manifested as limb ataxia, nystagmus, kyphoscoliosis, and pes cavus; the major pathologic changes are found in the posterior columns of the spinal cord.

Pagon,

R.A.,
Pagon syndrome - anemia from birth (in males); ataxia evident by age 1 year; clonus and positive Babinski sign. Synonym(s): sideroblastic anemia; spinocerebellar ataxia

spi·no·cer·e·bel·lar a·tax·i·a

(spī'nō-ser'ĕ-bĕl'lăr ă-tak'sē-ă)
Generic term now increasingly used to describe autosomal dominant-inherited ataxias that have a progressive course.
References in periodicals archive ?
Secondary RLS is associated with various pathological conditions such as iron deficiency, peripheral neuropathy, Parkinson's disease, essential tremor, renal failure, spinocerebellar ataxias, myelopathies, and myasthenia gravis (3-9).
The studies about dysphagia in spinocerebellar ataxias are still rare and, although dysphagia in MJD is a common complaint and symptom, it is not a very frequent subject approached by literature.
Spinocerebellar ataxias (SCA), inherited as autosomal dominant (AD), represent a neurodegenerative disease group that has a genetically and clinically heterogeneous structure.
GlobalData's clinical trial report, "Spinocerebellar Ataxias Global Clinical Trials Review, H2, 2015" provides an overview of Spinocerebellar Ataxias clinical trials scenario.
It also reviews key players involved in the therapeutic development for Spinocerebellar Ataxias and special features on late-stage and discontinued projects.
These articles provide an update on the state of clinical and basic science research in movement disorders (Huntington disease, Parkinson's disease, spinocerebellar ataxias (SCAs), and Wilson's disease), amyotrophic lateral sclerosis, cerebral vascular disease, epilepsy, infection/immunology diseases, and rare genetic disorders (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes [MELAS] and facioscapulohumeral muscular dystrophy [FSHD]).
Although only approximately 20 of these conditions have been identified, they include some of the commoner genetic conditions, such as fragile X mental retardation syndrome, myotonic dystrophy, Huntington disease (HD) and a number of the spinocerebellar ataxias.
Currently, there is no cure for spinocerebellar ataxias, and
1] Eng-King Tan, MD; Tetsuo Ashizawa, MD,2001; Genetic testing in spinocerebellar ataxias, defining a clinical role Arch Neurol;58: 191-195
Background & objectives: Spinocerebellar ataxias (SCAs) are often caused by expansions of CTG/ CAG trinucleotide repeat in the genome.
Niemann-Pick type C, Tay-Sachs, Sandhoff's); other storage disorders (neuronal ceroid lipofuscinosis, neuronal brain iron accumulation type 1, Wilson's disease, Lafora body disease); Baltic myoclonus; spinocerebellar ataxias or SCAs; dentatorubropallidoluysian atrophy (DRPLA); multiple sclerosis; and certain mitochondrial disorders;
Spinocerebellar Ataxias - Pipeline Review, Half Year is built using data and information sourced from Global Markets Direct's proprietary databases, Company/University websites, SEC filings, investor presentations and featured press releases from company/university sites and industry-specific third party sources, put together by Global Markets Direct's team.

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