KEGG   DISEASE: Kufor-Rakeb syndrome
Entry
H02207                      Disease                                
Name
Kufor-Rakeb syndrome;
Parkinson disease 9
  Supergrp
Neurodegeneration with brain iron accumulation [DS:H00833]
Description
Kufor Rakeb syndrome (KRS), also known as Parkinson disease 9 (PARK9), is an autosomal recessive disorder characterized by subacute, juvenile onset, levodopa responsive parkinsonism, pyramidal signs, dementia, and a supranuclear gaze palsy. It has been reported that brain MRI revealed generalized atrophy and putaminal and caudate iron accumulation bilaterally. KRS is due to ATP13A2 gene mutations.
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Disorders of metabolite absorption or transport
    5C64  Disorders of mineral absorption or transport
     H02207  Kufor-Rakeb syndrome
Gene
ATP13A2 [HSA:23400] [KO:K13526]
Other DBs
ICD-11: 5C64.10
MeSH: C537177
OMIM: 606693
Reference
PMID:20310007
  Authors
Schneider SA, Paisan-Ruiz C, Quinn NP, Lees AJ, Houlden H, Hardy J, Bhatia KP
  Title
ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation.
  Journal
Mov Disord 25:979-84 (2010)
DOI:10.1002/mds.22947
Reference
PMID:20853184
  Authors
Santoro L, Breedveld GJ, Manganelli F, Iodice R, Pisciotta C, Nolano M, Punzo F, Quarantelli M, Pappata S, Di Fonzo A, Oostra BA, Bonifati V
  Title
Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability.
  Journal
Neurogenetics 12:33-9 (2011)
DOI:10.1007/s10048-010-0259-0
Reference
PMID:15986421
  Authors
Williams DR, Hadeed A, al-Din AS, Wreikat AL, Lees AJ
  Title
Kufor Rakeb disease: autosomal recessive, levodopa-responsive parkinsonism with pyramidal degeneration, supranuclear gaze palsy, and dementia.
  Journal
Mov Disord 20:1264-71 (2005)
DOI:10.1002/mds.20511
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