Boucher Neuhauser Syndrome

Common Name(s)

Boucher Neuhauser Syndrome

Boucher-Neuhauser syndrome is an autosomal recessive disorder characterized classically by the triad of spinocerebellar ataxia, hypogonadotropic hypogonadism, and visual impairment due to chorioretinal dystrophy. The age at onset is variable, but most patients develop one or more symptoms in the first decade of life. Chorioretinal dystrophy may not always be present. BNHS is part of a spectrum of neurodegenerative diseases associated with mutations in the PNPLA6 gene that also includes spastic paraplegia-39 (SPG39; {612020}) (summary by {8:Synofzik et al., 2014}). See also Gordon Holmes syndrome (GDHS; {212840}), caused by mutation in the RNF216 gene ({609948}), which is also characterized by the combination of cerebellar ataxia and hypogonadotropic hypogonadism.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Boucher Neuhauser Syndrome" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Boucher Neuhauser Syndrome" returned 5 free, full-text research articles on human participants. First 3 results:

Compound heterozygous PNPLA6 mutations cause Boucher-Neuhäuser syndrome with late-onset ataxia.
 

Author(s): A Deik, B Johannes, J C Rucker, E Sánchez, S E Brodie, E Deegan, K Landy, Y Kajiwara, S Scelsa, R Saunders-Pullman, C Paisán-Ruiz

Journal: J. Neurol.. 2014 Dec;261(12):2411-23.

 

PNPLA6 mutations, known to be associated with the development of motor neuron phenotypes, have recently been identified in families with Boucher-Neuhäuser syndrome. Boucher-Neuhäuser is a rare autosomal recessive syndrome characterized by the co-occurrence of cerebellar ataxia, ...

Last Updated: 31 Dec 1969

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Ophthalmologic findings of Boucher-Neuhäuser syndrome.
 

Author(s): Sun Im Yu, Jung Lim Kim, Sul Gee Lee, Hyun Woong Kim, Sang Jin Kim

Journal: Korean J Ophthalmol. 2008 Dec;22(4):263-7.

 

To report a case of Boucher-Neuhäuser syndrome, which is an autosomal recessive disorder characterized by the triad of spinocerebellar ataxia, chorioretinal dystrophy, and hypogonadotropic hypogonadism. An 18-year-old man was seen for visual problems, which had been diagnosed as ...

Last Updated: 31 Dec 1969

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[Significance of neuroimaging in the diagnosis of Boucher-Neuhauser syndrome].
 

Author(s): Angelina V Santos, Paulo F Saraiva, Paula N Breia

Journal: Acta Med Port. ;16(3):193-5.

 

The authors report a case of a young patient with the clinic triad of cerebellar ataxia, retinal dystrophy and hypogonadotropic hypogonadism (Boucher Neuhauser Syndrome), of probable autosomal recessive inheritance, in which the brain MRI has a major role to the diagnosis.

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Boucher Neuhauser Syndrome" returned 3 free, full-text review articles on human participants. First 3 results:

Boucher-Neuhäuser syndrome: cerebellar degeneration, chorioretinal dystrophy and hypogonadotropic hypogonadism: two novel cases and a review of 40 cases from the literature.
 

Author(s): A A Tarnutzer, C Gerth-Kahlert, D Timmann, D I Chang, F Harmuth, P Bauer, D Straumann, M Synofzik

Journal: J. Neurol.. 2015 Jan;262(1):194-202.

 

The combination of progressive cerebellar degeneration, hypogonadotropic hypogonadism and chorioretinal dystrophy defines the rare Boucher-Neuhäuser syndrome (BNS), which has recently been linked to autosomal-recessive mutations in the PNPLA6 gene in four index patients. Here we ...

Last Updated: 31 Dec 1969

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Two sibs with chorioretinal dystrophy, hypogonadotrophic hypogonadism, and cerebellar ataxia: Boucher-Neuhäuser syndrome.
 

Author(s): P Rump, B C Hamel, A J Pinckers, P A van Dop

Journal: J. Med. Genet.. 1997 Sep;34(9):767-71.

 

We describe two sibs with chorioretinal dystrophy, hypogonadotrophic hypogonadism, and cerebellar ataxia, Boucher-Neuhäuser syndrome, a rare but distinct pleiotropic single gene disorder with an autosomal recessive pattern of inheritance. The cases presented illustrate that this ...

Last Updated: 31 Dec 1969

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A new family of Boucher-Neuhäuser syndrome: coexistence of Holmes type cerebellar atrophy, hypogonadotropic hypogonadism and retinochoroidal degeneration: case reports and review of literature.
 

Author(s): K Tojo, M Ichinose, M Nakayama, H Yamamoto, T Hasegawa, Y Kawaguchi, S C Sealfon, O Sakai

Journal: Endocr. J.. 1995 Jun;42(3):367-76.

 

The association of familial hypogonadism with progressive cerebellar ataxia is only rarely encountered, and the exact link between the symptoms remains unknown. We report here two sisters presenting with Holmes type cerebellar ataxia, hypogonadotropic hypogonadism and retinochoroidal ...

Last Updated: 31 Dec 1969

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