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ENSpinocerebellar Ataxia 46 (SCA46)
Alias:
Sca46
Spinocerebellar Ataxia, 46, Autosomal Dominant, with Sensory Axonal Neuropathy
Spinocerebellar Ataxia Type 46
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Spinocerebellar Ataxia 46, also known as sca46, is related to neuropathy, congenital hypomyelinating, 1, autosomal recessive and charcot-marie-tooth disease. An important gene associated with Spinocerebellar Ataxia 46 is PLD3 (Phospholipase D Family Member 3). Affiliated tissues include spinal cord and cerebellum, and related phenotypes are nystagmus and dysarthria
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