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Summary
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 NBIA1 (PKAN)
PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION PKAN
234600
OMIM = Online Medalian Inheritance of Men
157850
20p13
rare
autosomal recessive
mutation in the pantothenate kinase-2 gene
- classic PKAN (early childhood onset)
- atypical PKAN (later onset)
symptoms
ataxia
behavior, hyperactive, restless
dementia
depression
developmental delay
dysarthria
dysphagia
dystonia
extrapyramidal signs
feeding difficulties, poor feeding
gait disturbance
hyperreflexia
intellectual disability/intellectual developmental disorder (ID/ IDD)
onset, adolescent
onset, childhood
optic atrophy
Parkinsonism
pigmentation, skin and sclera
retinal or macular degeneration
retinitis pigmentosa
retinopathy
speech development, delayed, abnormal
tremor or twitching
laboratory finding
MRI, brain, abnormalities -
Iron brain
Literature
Tomlinson JW,et al.11beta-hydroxysteroid dehydrogenase type 1: a tissue-specific regulator of glucocorticoid responseEndocr Rev255831-662004
Feldman K,et al.Importance of the 11+¦-hydroxysteroid dehydrogenase enzyme in clinical disordersOrv Hetil1548283-2932013
Pereira CD,et al.11+¦-Hydroxysteroid dehydrogenase type 1: relevance of its modulation in the pathophysiology of obesity, the metabolic syndrome and type 2 diabetes mellitusDiabetes Obes Metab1410869-8812012
Vantyghem MC,et al.11beta-hydroxysteroide dehydrogenases. Recent advancesAnn Endocrinol (Paris). 2007 Oct68(5):349-56.685349-3562007
Morton NM,Seckl JR11beta-hydroxysteroid dehydrogenase type 1 and obesityFront Horm Res360146-1642008