TY - JOUR
T1 - Neuropsychological functions and psychiatric symptoms in late-onset manifestation of pantothenate kinase-associated neurodegeneration a clinical case report
AU - Palmeri, Rosanna
AU - Lo Buono, Viviana
AU - Berenati, Matteo
AU - Caporale, Mina
AU - Stroscio, Giuseppe
AU - Di Lorenzo, Giuseppe
AU - Bramanti, Alessia
AU - Sorbera, Chiara
AU - Marino, Silvia
PY - 2019/1/1
Y1 - 2019/1/1
N2 - Purpose of the study: Pantothenate Kinase-associated Neurodegeneration (PKAN) is a form of Neurodegeneration with brain iron accumulation (NBIA) due to gene mutations. Classical phenotype showed progressive neurological symptoms associated to a characteristic pattern of basal ganglia iron deposits. The atypical case, with adult-onset manifestation, could have neuropsychiatric symptoms with behavioral deficits. We described an adult-onset case of Pantothenate Kinase-associated Neurodegeneration. Materials and methods: The patient underwent neuropsychological and psychiatric evaluation and Magnetic Resonance Imaging, respectively for cognitive and behavioral assessment and to confirm the characteristic findings of this syndrome. Results: The patient showed atypical phenotype of Pantothenate Kinase-associated Neurodegeneration, characterized by language deficits, dixesecutive, and psychiatric manifestations, such as obsessive ideation, impulsivity, and disinhibition. Conclusions: This description could be helpful to a more correct diagnosis and clinical management.
AB - Purpose of the study: Pantothenate Kinase-associated Neurodegeneration (PKAN) is a form of Neurodegeneration with brain iron accumulation (NBIA) due to gene mutations. Classical phenotype showed progressive neurological symptoms associated to a characteristic pattern of basal ganglia iron deposits. The atypical case, with adult-onset manifestation, could have neuropsychiatric symptoms with behavioral deficits. We described an adult-onset case of Pantothenate Kinase-associated Neurodegeneration. Materials and methods: The patient underwent neuropsychological and psychiatric evaluation and Magnetic Resonance Imaging, respectively for cognitive and behavioral assessment and to confirm the characteristic findings of this syndrome. Results: The patient showed atypical phenotype of Pantothenate Kinase-associated Neurodegeneration, characterized by language deficits, dixesecutive, and psychiatric manifestations, such as obsessive ideation, impulsivity, and disinhibition. Conclusions: This description could be helpful to a more correct diagnosis and clinical management.
KW - basal ganglia
KW - executive functions
KW - iron accumulation
KW - Neurodegeneration
KW - psychiatric manifestations
UR - http://www.scopus.com/inward/record.url?scp=85076465966&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85076465966&partnerID=8YFLogxK
U2 - 10.1080/00207454.2019.1694924
DO - 10.1080/00207454.2019.1694924
M3 - Article
C2 - 31738088
AN - SCOPUS:85076465966
VL - 9
JO - International Journal of Neuroscience
JF - International Journal of Neuroscience
SN - 0020-7454
IS - 12
M1 - e01389
ER -