PLA2G6-Associated Neurodegeneration (PLAN): Review of Clinical Phenotypes and Genotypes
نویسندگان
چکیده
منابع مشابه
Phenotypes and Genotypes of Patients with Pantothenate Kinase-Associated Neurodegeneration in Asian and Caucasian Populations: 2 Cases and Literature Review
OBJECTIVES Pantothenate kinase-associated neurodegeneration (PKAN) is a rare disease caused by pantothenate kinase 2 (PANK2, OMIM 606157) mutations. This study is aimed to investigate clinical presentations, pathologies, and genetics in patients with PKAN. METHODS Two patients with PKAN were reported. We reviewed the literature to include additional 19 patients with PKAN in Eastern Asia. Thes...
متن کاملPLA2G6-associated neurodegeneration (PLAN): Further expansion of the clinical, radiological and mutation spectrum associated with infantile and atypical childhood-onset disease
Phospholipase A2 associated neurodegeneration (PLAN) is a major phenotype of autosomal recessive Neurodegeneration with Brain Iron Accumulation (NBIA). We describe the clinical phenotypes, neuroimaging features and PLA2G6 mutations in 5 children, of whom 4 presented with infantile neuroaxonal dystrophy (INAD). One other patient was diagnosed with the onset of PLAN in childhood, and our report h...
متن کاملPLA2G6-associated Dystonia–Parkinsonism: Case Report and Literature Review
BACKGROUND Phospholipase-associated neurodegeneration (PLAN) caused by PLA2G6 mutations is a recessively inherited disorder with three known phenotypes: the typical infantile onset neuroaxonal dystrophy (INAD); an atypical later onset form (atypical NAD); and the more recently recognized young-onset dystonia-parkinsonism (PLAN-DP). CASE REPORT We report the clinical, radiological, and genetic...
متن کاملChild Neurology: Two sisters with dystonia and regression: PLA2G6-associated neurodegeneration.
CLINICAL CASE, PART 1 A 19-month-old girl presented for neurologic consultation for delayed walking. She rolled at 6 months, sat unsupported at 8 months, but never walked independently. She babbled only. Her examination was notable for slightly decreased bulk in her legs, mild truncal hypotonia, and decreased deep tendon reflexes. She had difficulty pulling to stand and could only walk with sup...
متن کاملInfantile and childhood onset PLA2G6-associated neurodegeneration in a large North African cohort.
BACKGROUND AND PURPOSE Mutations in the PLA2G6 gene are causative of PLA2G6-associated neurodegeneration (PLAN), a spectrum of neurodegenerative conditions including infantile, childhood and adult onset forms. METHODS Seventeen North African patients with a clinical suspicion of infantile-onset PLAN underwent clinical, neurophysiological and neuroimaging examinations, and PLA2G6 sequencing. H...
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ژورنال
عنوان ژورنال: Frontiers in Neurology
سال: 2018
ISSN: 1664-2295
DOI: 10.3389/fneur.2018.01100