Spinocerebellar Ataxia 7

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OMIM 57 164500 Disease Ontology 12 DOID:0050958 Orphanet 59 ORPHA94147 UMLS via Orphanet 74 C0752125 ICD10 via Orphanet 34 G11.8

MedGen 42 C0752125 MeSH 44 D020754 SNOMED-CT via HPO 69 263681008 404686001 28835009 312917007 7973008 16110005 422338006 246622003 409668002 65956007 563001 76976005 69322001 221360009 397790002 8011004 224958001 95646004 32566006 205294008 26544005 26079004 86854008 36440009 432788009 42343007 84114007 288939007 40739000 278849000 418143002 52522001 43378000 76349003 271700006 230233000 23133003 49386006 67761004 397974008 398026008 59073000 246586009 366575004 13164000 78164000 399323001 32914008 more UMLS 73 C0752125 C2931905

NIH Rare Diseases : ⁵³ Spinocerebellar ataxia 7 (SCA7) is an inherited disease of the central nervous system that leads to impairment of specific nerve fibers carrying messages to and from the brain, resulting in degeneration of the cerebellum (the coordination center of the brain). SCA7 differs from most other forms of SCA in that visual problems, rather than poor coordination, are generally the earliest signs of the disease. Affected individuals have progressive changes in vision (which can result in blindness); symptoms of ataxia; slow eye movements; and mild changes in sensation or reflexes. Later symptoms include loss of motor control, unclear speech (dysarthria), and difficulty swallowing (dysphagia). Onset in early childhood or infancy has an especially rapid and aggressive course often associated with failure to thrive and regression of motor milestones. SCA7 is caused by mutations in the ATXN7 gene and is inherited in an autosomal dominant manner. Treatment is generally symptomatic and supportive.

MalaCards based summary : Spinocerebellar Ataxia 7, also known as spinocerebellar ataxia type 7, is related to olivopontocerebellar atrophy and autosomal dominant cerebellar ataxia, and has symptoms including muscle spasticity, abnormal pyramidal signs and abnormality of extrapyramidal motor function. An important gene associated with Spinocerebellar Ataxia 7 is ATXN7 (Ataxin 7), and among its related pathways/superpathways are Chromatin organization and Validated targets of C-MYC transcriptional activation. Affiliated tissues include eye, cerebellum and brain, and related phenotypes are nystagmus and dysarthria

OMIM : ⁵⁷ Spinocerebellar ataxia-7 (SCA7) is an autosomal dominant neurodegenerative disorder characterized by adult onset of progressive cerebellar ataxia associated with pigmental macular dystrophy. In her classification of ataxia, Harding (1982) referred to progressive cerebellar ataxia with pigmentary macular degeneration as type II ADCA (autosomal dominant cerebellar ataxia). The age at onset, degree of severity, and rate of progression vary among and within families. Associated neurologic signs, such as ophthalmoplegia, pyramidal or extrapyramidal signs, deep sensory loss, or dementia, are also variable. Genetic anticipation is observed and is greater in paternal than in maternal transmissions (Benomar et al., 1994; summary by David et al., 1996). For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400). (164500)

UniProtKB/Swiss-Prot : ⁷⁵ Spinocerebellar ataxia 7: Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA7 belongs to the autosomal dominant cerebellar ataxias type II (ADCA II) which are characterized by cerebellar ataxia with retinal degeneration and pigmentary macular dystrophy.

GeneReviews: NBK1256

Clinical features from OMIM:

164500

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased Nanog expression	GR00371-A-1	9.28	ATXN2 TRRAP
2	Increased Nanog expression	GR00371-A-2	9.28	ATXN2 TRRAP
3	Increased Nanog expression	GR00371-A-3	9.28	TRRAP
4	Increased Nanog expression	GR00371-A-5	9.28	TRRAP ATXN2 KAT2B TAF9

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