Clinical and neuropsychological correlates in two brothers with pantothenate kinase–associated neurodegeneration

✍ Scribed by Cecilia Marelli; Sylvie Piacentini; Barbara Garavaglia; Floriano Girotti; Alberto Albanese

• Book ID: 102504006
• Publisher: John Wiley and Sons
• Year: 2004
• Tongue: English
• Weight: 102 KB
• Volume: 20
• Category: Article
• ISSN: 0885-3185
• DOI: 10.1002/mds.20282

✦ Synopsis

Abstract

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. © 2004 Movement Disorder Society