Literature DB >> 93634

Familial cerebellar ataxia with hypogonadism.

A Lowenthal, J Bekaert, F Van Dessel, J van Hauwaert.   

Abstract

A brother and sister with congenital cerebellar ataxia, anosmia, oligophrenia, hypogonadism and anomalies of amino acid distribution are reported. Ties between the different symptoms are difficult to establish. It seems to be a new syndrome rather than a new disease. Once more these associations emphasize the need for metabolic and biochemical research in heredodegenerative diseases. The evolution of the disease in these cases might make it possible to classify and locate it more accurately.

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Year:  1979        PMID: 93634     DOI: 10.1007/bf00313001

Source DB:  PubMed          Journal:  J Neurol        ISSN: 0340-5354            Impact factor:   4.849


  6 in total

1.  FAMILIAL CEREBELLAR ATAXIA AND HYPOGONADISM.

Authors:  W B MATTHEWS; A T RUNDLE
Journal:  Brain       Date:  1964-09       Impact factor: 13.501

2.  Familial hypogonadotrophic eunuchoidism with cerebellar ataxia.

Authors:  R VOLPE; W S METZLER; M W JOHNSTON
Journal:  J Clin Endocrinol Metab       Date:  1963-01       Impact factor: 5.958

3.  Seminiferous tubule dysgenesis (Klinefelter's syndrome) associated with familiar cerebellar ataxia.

Authors:  A HECHT; H RUSKIN
Journal:  J Clin Endocrinol Metab       Date:  1960-08       Impact factor: 5.958

4.  Pallido-cerebello-olivary degeneration with eunuchoidism.

Authors:  R ALTSCHUL; K KOTLOWSKI
Journal:  J Nerv Ment Dis       Date:  1956-02       Impact factor: 2.254

5.  Cerebellar ataxia and hypergonadotropic hypogonadism in two kindreds. Chance concurrence, pleiotropism or linkage?

Authors:  H Skre; H H Bassöe; K Berg; A G Frövig
Journal:  Clin Genet       Date:  1976-02       Impact factor: 4.438

6.  A new juvenile hexosaminidase deficiency disease presenting as cerebellar ataxia. Clinical and biochemical studies.

Authors:  W G Johnson; A Chutorian; A Miranda
Journal:  Neurology       Date:  1977-11       Impact factor: 9.910

  6 in total
  6 in total

Review 1.  Two sibs with chorioretinal dystrophy, hypogonadotrophic hypogonadism, and cerebellar ataxia: Boucher-Neuhäuser syndrome.

Authors:  P Rump; B C Hamel; A J Pinckers; P A van Dop
Journal:  J Med Genet       Date:  1997-09       Impact factor: 6.318

Review 2.  Hypogonadism and neurological diseases.

Authors:  Abdulaziz Alsemari
Journal:  Neurol Sci       Date:  2013-01-05       Impact factor: 3.307

3.  Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination.

Authors:  David H Margolin; Maria Kousi; Yee-Ming Chan; Elaine T Lim; Jeremy D Schmahmann; Marios Hadjivassiliou; Janet E Hall; Ibrahim Adam; Andrew Dwyer; Lacey Plummer; Stephanie V Aldrin; Julia O'Rourke; Andrew Kirby; Kasper Lage; Aubrey Milunsky; Jeff M Milunsky; Jennifer Chan; E Tessa Hedley-Whyte; Mark J Daly; Nicholas Katsanis; Stephanie B Seminara
Journal:  N Engl J Med       Date:  2013-05-08       Impact factor: 91.245

4.  Familial spastic paraplegia with Kallmann's syndrome.

Authors:  R R Tuck; B P O'Neill; H Gharib; D W Mulder
Journal:  J Neurol Neurosurg Psychiatry       Date:  1983-07       Impact factor: 10.154

5.  Cerebellar deficient folia (cdf): a new mutation on mouse chromosome 6.

Authors:  S A Cook; R T Bronson; L R Donahue; N Ben-Arie; M T Davisson
Journal:  Mamm Genome       Date:  1997-02       Impact factor: 2.957

6.  Familial cerebellar ataxia and hypogonadotropic hypogonadism: evidence for hypothalamic LHRH deficiency.

Authors:  J Berciano; J A Amado; J Freijanes; M Rebollo; A Vaquero
Journal:  J Neurol Neurosurg Psychiatry       Date:  1982-08       Impact factor: 10.154

  6 in total

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