spinocerebellar ataxia type 35

A form of OMIM:613908 spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders in which patients show progressive incoordination of gait and often also of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord; type 35 involves the upper limb and neck (torticollis) without cognitive impairment.
Molecular pathology
Defects of TGM6, which encodes a transglutaminase that catalyses protein cross-linking, cause spinocerebellar ataxia type 35.

单词	spinocerebellar ataxia type 35
释义	spinocerebellar ataxia type 35 spinocerebellar ataxia type 35 A form of OMIM:613908 spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders in which patients show progressive incoordination of gait and often also of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord; type 35 involves the upper limb and neck (torticollis) without cognitive impairment. Molecular pathology Defects of TGM6, which encodes a transglutaminase that catalyses protein cross-linking, cause spinocerebellar ataxia type 35.
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