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Genetic heterogeneity in patients with pantothenate kinase–associated neurodegeneration and classic magnetic resonance imaging eye‐of‐the‐tiger pattern
Author(s) -
Valentino Paola,
Annesi Grazia,
Cirò Candiano Innocenza C.,
Annesi Ferdinanda,
Civitelli Donatella,
Tarantino Patrizia,
Naso Francesco,
Spadafora Patrizia,
Carrideo Sara,
De Marco Elvira V.,
Consoli Domenico,
Zappia Mario,
Gambardella Antonio,
Quattrone Aldo
Publication year - 2006
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.20681
Subject(s) - neurodegeneration , genetics , locus (genetics) , genetic linkage , magnetic resonance imaging , eye movement , biology , gene , neuroscience , medicine , pathology , disease , radiology
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 from the PANK2 region ruled out linkage with this locus, and no mutation of the PANK2 gene was found. In the second family with atypical PKAN, we identified a novel homozygous C‐to‐T transition at nucleotide 1069 of the PANK2 gene, which resulted in an arginine to tryptophane substitution at codon 357. As far as we are aware, this is the first case of classic PKAN with the specific MRI eye‐of‐the‐tiger pattern not carrying a PANK2 mutation. Therefore, the present observation reinforces the notion of the phenotypic and genetic heterogeneity in PKAN. © 2005 Movement Disorder Society