Typical pantothenate kinase-associated neurodegeneration caused by compound heterozygous mutations in PANK2 gene in a Chinese patient: a case report and literature review
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Neurology"
DOI: 10.3389/fneur.2023.1170557
Abstract: Pantothenate kinase-associated neurodegeneration (PKAN) is a rare genetic neurodegenerative disorder with brain iron accumulation characterized as dysarthria, spasticity, cognitive impairment, parkinsonism, and retinopathy. PKAN is caused by biallelic mutations in the mitochondrial pantothenate kinase 2… read more here.
Keywords: associated neurodegeneration; pank2 gene; pantothenate kinase; kinase associated ... See more keywords
Bi-Allelic Mutations in Zebrafish pank2 Gene Lead to Testicular Atrophy and Perturbed Behavior without Signs of Neurodegeneration
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms232112914
Abstract: Coenzyme A (CoA) is an essential cofactor in all living organisms, being involved in a large number of chemical reactions. Sequence variations in pantothenate kinase 2 (PANK2), the first enzyme of CoA biosynthesis, are found… read more here.
Keywords: signs neurodegeneration; neurodegeneration; pank2 gene; testicular atrophy ... See more keywords