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Literature DB >> 6604133

Familial spastic paraplegia with Kallmann's syndrome.

R R Tuck, B P O'Neill, H Gharib, D W Mulder.

Abstract

A sibship is reported in which two males have spastic paraparesis and Kallmann's syndrome (hypogonadotrophic hypogonadism and anosmia). One of the brothers also is color blind. The association of familial spastic paraplegia and Kallmann's syndrome has not been described previously.

Entities: Disease

Mesh：

Substances：
Gonadotropins, Pituitary

Year: 1983 PMID： 6604133 PMCID： PMC1027491 DOI： 10.1136/jnnp.46.7.671

Source DB: PubMed Journal: J Neurol Neurosurg Psychiatry ISSN： 0022-3050 Impact factor: 10.154

26 in total

1. Hypogonadotropic hypogonadism with anosmia--Kallmann's syndrome. A disorder of olfactory and hypothalamic function.

Authors: J L Males; J L Townsend; R A Schneider
Journal: Arch Intern Med Date: 1973-04

2. Hypogonadotropic eunuchoidism. I. Clinical study of the mode of inheritance.

Authors: R J Santen; C A Paulsen
Journal: J Clin Endocrinol Metab Date: 1973-01 Impact factor: 5.958

3. Hypogonadotropic hypogonadism in patients with multiple congenital defects.

Authors: C W Bardin
Journal: Birth Defects Orig Artic Ser Date: 1971-05

4. Familial hypogonadotropic hypogonadism with anosmia.

Authors: R S Sparkes; R W Simpson; C A Paulsen
Journal: Arch Intern Med Date: 1968-06

5. Moebius syndrome. Lower motor neuron involvement and hypogonadotrophic hypogonadism.

Authors: W H Olson; C W Bardin; G O Walsh; W K Engel
Journal: Neurology Date: 1970-10 Impact factor: 9.910

6. Familial ataxia, hypogonadism and retinal degeneration.

Authors: B J Boucher; F B Gibberd
Journal: Acta Neurol Scand Date: 1969 Impact factor: 3.209

7. Two kindreds with a sex-linked recessive form of spastic paraplegia.

Authors: T F Thurmon; B A Walker; C I Scott; M H Abbott
Journal: Birth Defects Orig Artic Ser Date: 1971-02

8. Ocular myopathy with pre-pubertal functional castration syndrome.

Authors: H Carton; J Gybels; J M Brucher
Journal: Acta Neurol Psychiatr Belg Date: 1969-04

9. Sex-linked spastic paraplegia.

Authors: H S Baar; A M Gabriel
Journal: Am J Ment Defic Date: 1966-07

10. Studies of the pituitary-Leydig cell axis in young men with hypogonadotropic hypogonadism and hyposmia: comparison with normal men, prepuberal boys, and hypopituitary patients.

Authors: C W Bardin; G T Ross; A B Rifkind; C M Cargille; M B Lipsett
Journal: J Clin Invest Date: 1969-11 Impact factor: 14.808

5 in total

Familial spastic paraplegia with Kallmann's syndrome.

1. Hypogonadotropic hypogonadism with anosmia--Kallmann's syndrome. A disorder of olfactory and hypothalamic function.

2. Hypogonadotropic eunuchoidism. I. Clinical study of the mode of inheritance.

3. Hypogonadotropic hypogonadism in patients with multiple congenital defects.

4. Familial hypogonadotropic hypogonadism with anosmia.

5. Moebius syndrome. Lower motor neuron involvement and hypogonadotrophic hypogonadism.

6. Familial ataxia, hypogonadism and retinal degeneration.

7. Two kindreds with a sex-linked recessive form of spastic paraplegia.

8. Ocular myopathy with pre-pubertal functional castration syndrome.

9. Sex-linked spastic paraplegia.

10. Studies of the pituitary-Leydig cell axis in young men with hypogonadotropic hypogonadism and hyposmia: comparison with normal men, prepuberal boys, and hypopituitary patients.

Review 1. Hereditary spastic paraparesis: a review of new developments.

Review 2. Hypogonadism and neurological diseases.

3. X linked spastic paraplegia (SPG2): clinical heterogeneity at a single gene locus.

4. Expression of the KAL gene in multiple neuronal sites during chicken development.

Review 5. Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.