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Pure akinesia: An unusual phenotype of Hallervorden‐Spatz syndrome
Author(s) -
Molinuevo José L.,
Martí María J.,
Blesa Rafael,
Tolosa Eduardo
Publication year - 2003
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.10520
Subject(s) - missense mutation , phenotype , compound heterozygosity , medicine , genetics , biology , gene
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. © 2003 Movement Disorder Society