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Hyperkinetic Movement Disorders
Published in Philip B. Gorelick, Fernando D. Testai, Graeme J. Hankey, Joanna M. Wardlaw, Hankey's Clinical Neurology, 2020
Morales-Briceno Hugo, Victor S.C. Fung, Annu Aggarwal, Philip Thompson
Metal and related disorders: Wilson's disease (WD).Neurodegeneration with brain iron accumulation (NBIA) syndromes.Manganese transporter deficiency syndrome.Primary familial calcification syndromes.
Novel compound heterozygous PANK2 gene mutations in a Chinese patient with atypical pantothenate kinase-associated neurodegeneration
Published in International Journal of Neuroscience, 2018
Yuan Cheng, Yu-tao Liu, Zhi-hua Yang, Jing Yang, Chang-he Shi, Yu-ming Xu
Neurodegeneration with brain iron accumulation (NBIA) is a syndrome encompassing a heterogeneous group of disorders, which are characterised by iron accumulation in the basal ganglia. To date, more than ten genes related to the disease have been identified [1], resulting in a variety of specific disorders. Among them, a rare autosomal recessive neurodegenerative disorder known as pantothenate-kinase-associated neurodegeneration (PKAN) is the major form of NBIA, accounting for almost 50% of cases [2]. PKAN results from pantothenate kinase 2 (PANK2) gene mutations. The PANK2 gene was first identified in Hallervorden–Spatz syndrome (HSS) in 2001[3]; thus, PKAN was formerly known as Hallervorden–Spatz disease, which was first described in 1922 by the German neuropathologists Julius Hallervorden and Hugo Spatz.
Neuropsychological functions and psychiatric symptoms in late-onset manifestation of pantothenate kinase-associated neurodegeneration: a clinical case report
Published in International Journal of Neuroscience, 2020
Rosanna Palmeri, Viviana Lo Buono, Matteo Berenati, Mina Caporale, Giuseppe Stroscio, Giuseppe Di Lorenzo, Alessia Bramanti, Chiara Sorbera, Silvia Marino
Neurodegeneration with brain iron accumulation (NBIA) is a group of rare neurologic disorders. The most prevalent form of NBIA is the pantothenate kinase-associated neurodegeneration (PKAN), characterized by mutations in pantothenate kinase 2 (PANK2), a gene located on chromosome 20p13, essential for coenzyme A (CoA) synthesis [1].