✦ LIBER ✦

Novel compound heterozygous mutations in the PANK2 gene in a Chinese patient with atypical pantothenate kinase-associated neurodegeneration

✍ Scribed by Yu-hu Zhang; Bei-sha Tang; Ai-ling Zhao; Kun Xia; Zhi-gao Long; Ji-feng Guo; Shawn K. Westaway; Susan J. Hayflick

Publisher: John Wiley and Sons
Year: 2005
Tongue: English
Weight: 81 KB
Volume: 20
Category: Article
ISSN: 0885-3185
DOI: 10.1002/mds.20408

No coin nor oath required. For personal study only.

✦ Synopsis

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 heterozygous mutations in the exon 3 and 5. This patient had a 10‐year history of PKAN characterized by a slight tremor of the right hand when writing at onset and a slow progressive rigidity of the neck and the right arm and resting tremor in upper extremities. Dysarthria, dysphagia, and dystonic‐athetoid movements of the face and right fingers were marked. Magnetic resonance showed the typical “eye‐of‐the‐tiger” sign. © 2005 Movement Disorder Society

📜 SIMILAR VOLUMES

Novel PANK2 gene mutations in Korean pat

Novel PANK2 gene mutations in Korean patient with pantothenate kinase-associated neurodegeneration presenting unilateral dystonic tremor

✍ Won Tae Yoon; Won Yong Lee; Hee-Young Shin; Seung-Tae Lee; Chang-Seok Ki 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 287 KB

Pantothenate kinase-associated neurodege

Pantothenate kinase-associated neurodegeneration in two Taiwanese siblings: Identification of a novel PANK2 gene mutation

✍ Yih-Ru Wu; Chiung-Mei Chen; Chih-Ying Chao; Ron-Kuo Lyu; Guey-Jen Lee-Chen 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 302 KB

Dilated cardiomyopathy with conduction d

Dilated cardiomyopathy with conduction defects in a patient with partial merosin deficiency due to mutations in the laminin-α2-chain gene: A chance association or a novel phenotype?

✍ Nicola Carboni; Giovanni Marrosu; Maurizio Porcu; Anna Mateddu; Elisabetta Solla 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 350 KB

Two novel mutant alleles of the gene enc

Two novel mutant alleles of the gene encoding neurotrophic tyrosine kinase receptor type 1 (NTRK1) in a patient with congenital insensitivity to pain with anhidrosis: A splice junction mutation in intron 5 and cluster of four mutations in exon 15

✍ Marek Bodzioch; Katarzyna Lapicka; Charalampos Aslanidis; Marek Kacinski; Gerd S 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 34 KB 👁 3 views

Congenital insensitivity to pain with anhidrosis (CIPA), also called hereditary sensory and autonomic neuropathy type IV (HSAN IV), is caused by mutations of the NTRK1 gene coding for the neurotrophic tyrosine kinase receptor type 1. We report the results of the NTRK1 sequence analysis in a CIPA fam