Pure akinesia: an unusual phenotype of Hallervorden-Spatz syndrome.
Two siblings were seen in our outpatient movement disorders clinic with an indolent clinical picture of a pure akinesia syndrome. Magnetic resonance showed the typical "eye of the tiger" sign, and genetic screening disclosed that both siblings were compound heterozygotes with two missense mutations in the PANK2 gene 734A-->G and 1172T-->C. This case report highlights the phenotypic diversity of Hallervorden Spatz syndrome and the need for further investigation of adult-onset pure akinesia syndromes.
Molinuevo
José L
JL
Servei de Neurologia, ICMSN, Hospital Clínic i Universitari, Barcelona, Spain.
Martí
María J
MJ
Blesa
Rafael
R
Tolosa
Eduardo
E
D000328:Adult; D000368:Aged; D001921:Brain / Q000473:pathology*; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009069:Movement Disorders / Q000175:diagnosis* / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics; D006211:Pantothenate Kinase-Associated Neurodegeneration / Q000175:diagnosis* / Q000235:genetics*; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics*; D017354:Point Mutation / Q000235:genetics
D017853:Phosphotransferases (Alcohol Group Acceptor); C023088:pantothenate kinase