Ataxia due to Refsum disease

Тодорхойлолт

Ataxia in the setting of Refsum disease, a rare autosomal recessive disorder caused by a mutation in the PHYH gene coding for peroxisomal phytanoyl-CoA hydroxylase or PEX7, coding for peroxin 7 receptor protein. Onset is usually in late childhood, initially presenting with retinitis pigmentosa, with progression to ataxia and chronic polyneuropathy.

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