KEGG   DISEASE: Boucher-Neuhauser syndromeHelp
Entry
H02140                      Disease                                

Name
Boucher-Neuhauser syndrome
  Supergrp
PNPLA6-related disorders [DS:H01898]
Description
Boucher-Neuhauser syndrome (BNS) is a rare syndrome characterized by the triad of early-onset autosomal-recessive cerebellar ataxia (ARCA), hypogonadotropic hypogonadism, and chorioretinal dystrophy. Gait ataxia in BNS has been typically reported between the first and third decades of life; later ages of onset are rare. BNS has recently been linked to autosomal-recessive mutations in the PNPLA6 gene.
Category
Nervous system disease
Brite
Human diseases [BR:br08402]
 Nervous system diseases
  Other nervous and sensory system diseases
   H02140  Boucher-Neuhauser syndrome
Human diseases in ICD-11 classification [BR:br08403]
 08 Diseases of the nervous system
  Movement disorders
   8A03  Ataxic disorders
    H02140  Boucher-Neuhauser syndrome
BRITE hierarchy
Pathway
hsa00564 Glycerophospholipid metabolism   
Gene
PNPLA6 [HSA:10908] [KO:K14676]
Other DBs
ICD-11: 8A03.1Y
ICD-10: G11.8
OMIM: 215470
Reference
PMID:5806782
  Authors
Boucher BJ, Gibberd FB
  Title
Familial ataxia, hypogonadism and retinal degeneration.
  Journal
Acta Neurol Scand 45:507-10 (1969)
DOI:10.1111/j.1600-0404.1969.tb01261.x
Reference
PMID:1149314
  Authors
Neuhauser G, Opitz JM
  Title
Autosomal recessive syndrome of cerebellar ataxia and hypogonadotropic hypogonadism.
  Journal
Clin Genet 7:426-34 (1975)
DOI:10.1111/j.1399-0004.1975.tb00353.x
Reference
  Authors
Tarnutzer AA, Gerth-Kahlert C, Timmann D, Chang DI, Harmuth F, Bauer P, Straumann D, Synofzik M
  Title
Boucher-Neuhauser syndrome: cerebellar degeneration, chorioretinal dystrophy and hypogonadotropic hypogonadism: two novel cases and a review of 40 cases from the  literature.
  Journal
J Neurol 262:194-202 (2015)
DOI:10.1007/s00415-014-7555-9
Reference
  Authors
Deik A, Johannes B, Rucker JC, Sanchez E, Brodie SE, Deegan E, Landy K, Kajiwara Y, Scelsa S, Saunders-Pullman R, Paisan-Ruiz C
  Title
Compound heterozygous PNPLA6 mutations cause Boucher-Neuhauser syndrome with late-onset ataxia.
  Journal
J Neurol 261:2411-23 (2014)
DOI:10.1007/s00415-014-7516-3
Reference
  Authors
Synofzik M, Gonzalez MA, Lourenco CM, Coutelier M, Haack TB, Rebelo A, Hannequin D, Strom TM, Prokisch H, Kernstock C, Durr A, Schols L, Lima-Martinez MM, Farooq A, Schule R, Stevanin G, Marques W Jr, Zuchner S
  Title
PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum.
  Journal
Brain 137:69-77 (2014)
DOI:10.1093/brain/awt326
Reference
  Authors
Topaloglu AK, Lomniczi A, Kretzschmar D, Dissen GA, Kotan LD, McArdle CA, Koc AF, Hamel BC, Guclu M, Papatya ED, Eren E, Mengen E, Gurbuz F, Cook M, Castellano JM, Kekil MB, Mungan NO, Yuksel B, Ojeda SR
  Title
Loss-of-function mutations in PNPLA6 encoding neuropathy target esterase underlie pubertal failure and neurological deficits in Gordon Holmes syndrome.
  Journal
J Clin Endocrinol Metab 99:E2067-75 (2014)
DOI:10.1210/jc.2014-1836

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