Periodic alternating nystagmus and periodic alternating skew deviation in spinocerebellar ataxia type 6.
The combination of periodic alternating nystagmus (PAN) and periodic alternating skew deviation (PASD) is rare. We report a case of PAN and PASD in a patient with spinocerebellar ataxia type 6 (SCA-6) and discuss the role of the cerebellum as a plausible mechanism for this combined pathologic condition.
Colen
Chaim B
CB
Department of Neurological Surgery, Wayne State University, Detroit, Michigan, USA.
Ketko
Anastasia
A
George
Edwin
E
Van Stavern
Gregory P
GP
D015220:Calcium Channels / Q000235:genetics; D020864:Calcium Channels, N-Type / Q000235:genetics; D002531:Cerebellum / Q000473:pathology / Q000503:physiopathology*; D004252:DNA Mutational Analysis; D005819:Genetic Markers / Q000235:genetics; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D009759:Nystagmus, Pathologic / Q000209:etiology* / Q000503:physiopathology*; D015835:Ocular Motility Disorders / Q000209:etiology* / Q000503:physiopathology*; D011689:Purkinje Cells / Q000378:metabolism / Q000473:pathology; D012027:Reflex, Vestibulo-Ocular / Q000235:genetics; D020754:Spinocerebellar Ataxias / Q000150:complications* / Q000175:diagnosis / Q000235:genetics
D015220:Calcium Channels; D020864:Calcium Channels, N-Type; D005819:Genetic Markers; C105656:CACNA1A protein, human