1989
DOI: 10.1002/ajmg.1320330325
|View full text |Cite
|
Sign up to set email alerts
|

Spinocerebellar ataxia, hypogonadotropic hypogonadism, and choroidal dystrophy (Boucher‐Neuhäuser syndrome

Abstract: We describe two families (including one previously reported) in which cerebellar or spinocerebellar ataxia, hypogonadotropic hypogonadism, and choroidal dystrophy result from abnormal function of an autosomal recessive gene. Review of the literature adds one other family with this disorder. These three examples confirm the existence of this traid as a specific, pleiotropic, single-gene syndrome. Careful ophthalmologic evaluation of patients with ataxia and hypogonadotropic hypogonadism may identify additional … Show more

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...
3
1
1

Citation Types

3
20
0
3

Year Published

1994
1994
2022
2022

Publication Types

Select...
8

Relationship

0
8

Authors

Journals

citations
Cited by 44 publications
(26 citation statements)
references
References 15 publications
3
20
0
3
Order By: Relevance
“…The second most common symptom at onset is visual loss, which is seen in 30% (9/30) of the patients overall, 50% in early BNS and 20% in late BNS. Visual symptoms present as insidious-onset slowly progressive dimness of vision and nyctalopia 7. Patients who do not have any visual complaints are diagnosed only after detailed ophthalmic evaluation as in our patients.…”
Section: Discussion and Literature Reviewmentioning
confidence: 81%
See 1 more Smart Citation
“…The second most common symptom at onset is visual loss, which is seen in 30% (9/30) of the patients overall, 50% in early BNS and 20% in late BNS. Visual symptoms present as insidious-onset slowly progressive dimness of vision and nyctalopia 7. Patients who do not have any visual complaints are diagnosed only after detailed ophthalmic evaluation as in our patients.…”
Section: Discussion and Literature Reviewmentioning
confidence: 81%
“…It was first described in 1969 by Boucher et al in two siblings 1. The BNS patients described in the literature have heterogenous phenotypic presentations in addition to the classical triad with hypersegmented neutrophils,2 3 hypocalciuric hypercalcaemia,4 central demyelinating changes5 6 pyramidal tract involvement6 7 etc. They have a variable age of symptom onset1 3 (4–40 years) and variable symptom at onset, the commonest being the cerebellar type of ataxia which is usually slowly progressive with minimal disability 4.…”
Section: Introductionmentioning
confidence: 99%
“…It was Boucher and Gibberd [2] who first reported the combination of slowly progressive ataxia, hypogonadotropic hypogonadism and chorioretinal degeneration in single families. Later, this syndrome was recognized as a specific disease entity known as BoucherNeuhäuser syndrome (BNS) (OMIM 215470) [1,3,4], named after the first authors of the first case descriptions. Very recently, recessive mutations in the PNPLA6 gene were reported in four families with the clinical phenotype of BNS, but also in one patient with Gordon Holmes syndrome and one with hereditary spastic paraparesis [5], suggesting that PNPLA6 mutations cause BNS not as an isolated syndrome, but as a disease cluster on a continuous spectrum of neurodegenerative disorders (for an overview see [6]).…”
Section: Introductionmentioning
confidence: 99%
“…Wereport here a very rare case of Boucher-Neuhauser syndrome associated with hypocalciuric hypercalcemia. To date, a review of the literature reveals only 3 reports compatible with this syndrome (8)(9)(10) and endocrinological evaluation of patients with this syndrome were quite incomplete. It should be emphasized that careful endocrinological evaluation of patients with this syndrome maycontribute to further understanding of the pathogenetical basis of this new disease entity.…”
Section: Discussionmentioning
confidence: 99%
“…In his original paper, Holmes also demonstrated the association of hypogonadismwith cerebellar ataxia. Since then, various combinationsof cerebellar ataxia and hypogonadism have been reported (2)(3)(4)(5)(6)(7)(8)(9)(10) Case Report…”
Section: Introductionmentioning
confidence: 99%