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Atypical Hallervorden–Spatz disease with preserved cognition and obtrusive obsessions and compulsions
Author(s) -
Nicholas Anthony P.,
Earnst Kelly S.,
Marson Daniel C.
Publication year - 2005
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.20476
Subject(s) - dysarthria , psychology , neuropsychology , audiology , dementia , cognition , ataxia , dystonia , neuroscience , disease , psychiatry , medicine , pathology
We describe the case of an adult female with Hallervorden–Spatz disease (HSD), “eye‐of‐the‐tiger” sign on cranial magnetic resonance imaging scan, and two mutations in the pantothenate kinase 2 (PANK2) gene. Symptomatic presentation included stuttering dysarthria, dystonic posturing, increased limb and axial muscle tone, choreoathetosis, stereotyped motor behaviors, and obsessive–compulsive symptomatology since adolescence. Extensive neuropsychological testing at 40 and 44 years of age revealed a relatively normal IQ and stable cognitive pattern overall. This case demonstrates that HSD patients who survive into middle age should not be assumed to have a progressive dementia. In such cases, atypical behavioral problems such as persistent obsessions and compulsions may be present instead. © 2005 Movement Disorder Society