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

Cecilia Marelli, Sylvie Piacentini, Barbara Garavaglia, Floriano Girotti, Alberto Albanese

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)208-212
Number of pages5
JournalMovement Disorders
Volume20
Issue number2
DOIs
Publication statusPublished - Feb 2005

Keywords

  • Dystonia
  • Hallervorden-Spatz syndrome
  • Neuropsychology
  • Obsessive-compulsive behavior

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

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