✦ LIBER ✦

Pure akinesia: An unusual phenotype of Hallervorden-Spatz syndrome

✍ Scribed by José L. Molinuevo; María J. Martí; Rafael Blesa; Eduardo Tolosa

Book ID: 102506642
Publisher: John Wiley and Sons
Year: 2003
Tongue: English
Weight: 94 KB
Volume: 18
Category: Article
ISSN: 0885-3185
DOI: 10.1002/mds.10520

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✦ Synopsis

Abstract

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

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