spinocerebellar ataxia type 5

A slowly progressive autosomal dominant form (OMIM:600224) of cerebellar 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 5 is of a variable onset between age 10 and 50.
Molecular pathology
Caused by defects of SPTBN2, which encodes a non-erythrocyte beta spectrin that regulates the glutamate signalling pathway.

单词	spinocerebellar ataxia type 5
释义	spinocerebellar ataxia type 5 spinocerebellar ataxia type 5 A slowly progressive autosomal dominant form (OMIM:600224) of cerebellar 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 5 is of a variable onset between age 10 and 50. Molecular pathology Caused by defects of SPTBN2, which encodes a non-erythrocyte beta spectrin that regulates the glutamate signalling pathway.
随便看	risk (futures) risk graph risk graphs sixteenth all-russian congress of soviets of workers, peasants, and sixteenth amendment sixteenth amendment to the constitution sixteenth century journal sixteenth conference of the all-union communist party bolshevik sixteenth congress of the all-union communist party bolshevik sixteenthly sixteenth note sixteenth notes sixteenth part sixteenth rest sixteenths sixteen-year-old six-tenths factor sixth sixth all-russian conference of the russian social democratic labor sixth amendment sixth amendment to the united states constitution sixth baron byron of rochdale sixth chord sixth congress of soviets of the ussr sixth congress of the russian social democratic labor party bolshevik