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Adult Hallervorden–Spatz syndrome simulating amyotrophic lateral sclerosis
Author(s) -
Vasconcelos O. M.,
Harter D. H.,
Duffy C.,
McDonough B.,
Seidman J. G.,
Seidman C. E.,
Campbell W. W.
Publication year - 2003
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.10389
Subject(s) - amyotrophic lateral sclerosis , dysarthria , progressive muscular atrophy , dystonia , bulbar palsy , medicine , ataxia , pathology , psychology , neuroscience , audiology , disease
Abstract Hallervorden–Spatz syndrome (HSS) is a neurodegenerative disorder characterized by progressive dementia, dystonia, ataxia, and rigidity. An atypical form of adult‐onset HSS was observed in a 36‐year‐old man presenting with progressive dysarthria. Markedly dysarthric speech and a weak atrophic tongue associated with a neurogenic pattern of motor unit recruitment in bulbar‐supplied muscles on electromyography led to an initial impression of bulbar amyotrophic lateral sclerosis (ALS). Lack of expected progression of symptoms, however, prompted reinvestigation. Repeat brain magnetic resonance imaging demonstrated an “eye‐of‐the‐tiger” pattern in the basal ganglia, characteristic of HSS, thus requiring genetic studies. DNA analyses of the pantothenate kinase gene ( PANK2 ) was conducted and revealed two novel, disease‐causing exon 3 missense mutations (Cys231Ser and Tyr251Cys). This case broadens the genotypic and phenotypic spectrum of HSS to include a late‐onset syndrome resembling bulbar‐onset ALS. Muscle Nerve 28: 118–122, 2003