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

Movement Disorders : Official Journal of the Movement Disorder Society
C MarelliA Albanese

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.

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Citations

Dec 6, 2012·Journal of Neural Transmission·Susanne A Schneider, Kailash P Bhatia
Aug 10, 2010·Current Neurology and Neuroscience Reports·Susanne A Schneider, Kailash P Bhatia
Jan 8, 2016·Current Neurology and Neuroscience Reports·Susanne A Schneider
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Sep 8, 2010·Revue neurologique·A E Elia, A Albanese
Feb 3, 2009·Movement Disorders : Official Journal of the Movement Disorder Society·Susanne A SchneiderJohn Hardy
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Nov 30, 2007·Movement Disorders : Official Journal of the Movement Disorder Society·Paulo BugalhoMiguel Xavier
Aug 11, 2011·Movement Disorders : Official Journal of the Movement Disorder Society·Bernardo Barahona-CorrêaMiguel Xavier
Jun 24, 2011·Movement Disorders : Official Journal of the Movement Disorder Society·Marjan JahanshahiAnd Mateusz Zurowski
Oct 28, 2011·Movement Disorders : Official Journal of the Movement Disorder Society·Susanne A SchneiderKailash P Bhatia
Apr 24, 2014·Movement Disorders : Official Journal of the Movement Disorder Society·Mark Walterfang, Bart P van de Warrenburg
Dec 30, 2014·Journal of Neuroimaging : Official Journal of the American Society of Neuroimaging·Lázaro L F AmaralAsim K Bag
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Mar 7, 2019·Movement Disorders Clinical Practice·Randall D MarshallWilliam R Lenderking
May 19, 2021·Movement Disorders : Official Journal of the Movement Disorder Society·Nivedita ThakurHyder A Jinnah

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