𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Anticholinergic-responsive gait freezing in a patient with pantothenate kinase-associated neurodegeneration

✍ Scribed by Chul Hyoung Lyoo; Holger Prokisch; Thomas Meitinger; Seung Yeob Lee; Do Hyoun Kim; Myung Sik Lee


Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
70 KB
Volume
23
Category
Article
ISSN
0885-3185

No coin nor oath required. For personal study only.

✦ Synopsis


Abstract

A 43‐year‐old male patient suddenly developed freezing of gait (FOG) when making a first step, turning, or passing through a narrow path. Dystonic plantar flexion of his left foot always accompanied with FOG. He could walk without FOG when stepping on visual cues. Brain magnetic resonance imaging study showed typical “eye of the tiger” sign in the globus pallidus. He had heterozygous mutations in the exons 3 and 4 in the PANK2 gene. His FOG dramatically responded to the anticholinergic treatment. We report the first instance of a patient with genetically confirmed pantothenate kinase associated neurodegeneration showing typical FOG that responded to anticholinergic treatment. © 2007 Movement Disorder Society


📜 SIMILAR VOLUMES


Novel compound heterozygous mutations in
✍ Yu-hu Zhang; Bei-sha Tang; Ai-ling Zhao; Kun Xia; Zhi-gao Long; Ji-feng Guo; Sha 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 81 KB

## Abstract We investigated the presence of mutations in the pantothenate kinase (__PANK2__) gene in a 27‐year‐old male Chinese patient with atypical pantothenate kinase‐associated neurodegeneration (PKAN), formerly Hallervorden‐Spatz syndrome. Automated DNA sequence analyses revealed compound hete

Genetic heterogeneity in patients with p
✍ Paola Valentino; Grazia Annesi; Innocenza C. Cirò Candiano; Ferdinanda Annesi; D 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 100 KB

## Abstract We performed a detailed molecular study in two unrelated families with pantothenate kinase–associated neurodegeneration (PKAN) and the specific magnetic resonance imaging (MRI) eye‐of‐the‐tiger pattern. In the first family with classic PKAN, linkage analysis using polymorphic markers fr