Clinical and neuropsychological correlates in two brothers with pantothenate kinase-associated neurodegeneration.
Adult-onset focal dystonia was the presenting sign of pantothenate kinase-associated neurodegeneration (PKAN) in a patient with a novel homozygous missense mutation (C856T). His brother shared the same mutation and showed similar, albeit minor, motor signs, but a different behavioral profile. Both brothers had an atypical form of PKAN. The neuropsychological assessment showed that, despite a normal Mini-Mental State Examination, both patients presented a deficit of executive functions and of attention. The profile of cognitive impairment in these cases was typically that of a subcortical dementia. Both patients fulfilled Diagnostic and Statistical Manual for Mental Disorders criteria for obsessive-compulsive disorder; however, paranoia was associated with depression and aggressive behavior in Patient 1, whereas Patient 2 had hyperactivity, disinhibition, and euphoria. Our findings suggest that these two brothers had a different pattern of involvement of motor and nonmotor basal ganglia-thalamocortical circuits.
Marelli
Cecilia
C
Istituto Nazionale Neurologico Carlo Besta, Milano, Italy.
Piacentini
Sylvie
S
Garavaglia
Barbara
B
Girotti
Floriano
F
Albanese
Alberto
A
D000328:Adult; D001288:Attention / Q000502:physiology; D003072:Cognition Disorders / Q000503:physiopathology; D004421:Dystonia / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology*; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D008609:Mental Status Schedule; D020125:Mutation, Missense / Q000235:genetics; D009483:Neuropsychological Tests / Q000706:statistics & numerical data; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics*; D011340:Problem Solving / Q000502:physiology; D035781:Siblings
D017853:Phosphotransferases (Alcohol Group Acceptor); C023088:pantothenate kinase