TY - JOUR
T1 - Atypical late presentation of BPAN in a male
T2 - A case report
AU - Boca, Mihaela
AU - Herwadkar, Amit
AU - Garrard, Kate
AU - Beauchamp, Nicholas
AU - Breen, Catherine
AU - Silverdale, Monty
AU - Kobylecki, Christopher
PY - 2019/3
Y1 - 2019/3
N2 - Beta-propeller protein-associated neurodegeneration (BPAN), the only currently known X-linked dominant neurodegeneration with brain iron accumulation (NBIA) syndrome, is characterized by severe intellectual disability in infancy, including infantile seizure disorders and pervasive behavioural disturbances. Movement disorders and dementia typically occur years after this initial static phase of developmental delay
AB - Beta-propeller protein-associated neurodegeneration (BPAN), the only currently known X-linked dominant neurodegeneration with brain iron accumulation (NBIA) syndrome, is characterized by severe intellectual disability in infancy, including infantile seizure disorders and pervasive behavioural disturbances. Movement disorders and dementia typically occur years after this initial static phase of developmental delay
U2 - 10.1016/j.parkreldis.2018.09.010
DO - 10.1016/j.parkreldis.2018.09.010
M3 - Article
C2 - 30220557
SN - 1353-8020
VL - 60
SP - 184
EP - 185
JO - Parkinsonism & Related Disorders
JF - Parkinsonism & Related Disorders
ER -