Poretti-Boltshauser syndrome (PTBHS) is an autosomal recessive disorder characterized by nonprogressive cerebellar ataxia, intellectual disability, and ocular apraxia with cerebellar cysts. It has been reported that mutations in LAMA1 cause this disease.
Poretti A, Hausler M, von Moers A, Baumgartner B, Zerres K, Klein A, Aiello C, Moro F, Zanni G, Santorelli FM, Huisman TA, Weis J, Valente EM, Bertini E, Boltshauser E
タイトル
Ataxia, intellectual disability, and ocular apraxia with cerebellar cysts: a new disease?
