伴有卡尔曼综合征的家族性痉挛性截瘫
Familial spastic paraplegia with Kallmann's syndrome.
作者信息
Tuck R R, O'Neill B P, Gharib H, Mulder D W
出版信息
J Neurol Neurosurg Psychiatry. 1983 Jul;46(7):671-4. doi: 10.1136/jnnp.46.7.671.
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.
摘要
据报道，有一个家族，其中两名男性患有痉挛性截瘫和卡尔曼综合征（促性腺激素缺乏性性腺功能减退和嗅觉缺失）。兄弟中的一人还患有色盲。家族性痉挛性截瘫与卡尔曼综合征的关联此前尚未见报道。
相似文献
1
Familial spastic paraplegia with Kallmann's syndrome.伴有卡尔曼综合征的家族性痉挛性截瘫
J Neurol Neurosurg Psychiatry. 1983 Jul;46(7):671-4. doi: 10.1136/jnnp.46.7.671.
2
[Association between hypogonadotrophic hypogonadism and familial deafness: a variation of Kallmann's syndrome?].
J Genet Hum. 1976 Nov;24 Suppl:207-14.
3
A case of hypogonadotrophic hypogonadism with anosmia (Kallmann's syndrome) in a male, with familial incidence of a small metacentric chromosome (47,XX, mat?+).一名男性患有伴有嗅觉缺失的低促性腺激素性性腺功能减退症（卡尔曼综合征），家族中存在小中着丝粒染色体（47,XX, mat?+）的发病情况。
J Med Genet. 1976 Feb;13(1):71-5. doi: 10.1136/jmg.13.1.71.
4
[Genetic considerations on Kallmann's syndrome (hypogonadotropic hypogenitalism with anosmia)].
Rev Med Suisse Romande. 1978 May;98(5):237-41.
5
Diagnosis of Kallmann's syndrome in early infancy.
Acta Paediatr Scand. 1982 Nov;71(6):937-40. doi: 10.1111/j.1651-2227.1982.tb09552.x.
6
Heterogeneity of Kallmann's syndrome.
Clin Genet. 1985 Aug;28(2):106-11. doi: 10.1111/j.1399-0004.1985.tb00368.x.
7
Isolated hypogonadotrophic hypogonadism: a family with autosomal dominant inheritance.孤立性促性腺激素缺乏性性腺功能减退症：一个常染色体显性遗传家系。
Clin Endocrinol (Oxf). 1990 Mar;32(3):341-7. doi: 10.1111/j.1365-2265.1990.tb00875.x.
8
Heredofamilial syndrome of spastic paraplegia, dysarthria and cutaneous lesions in ive siblings.五名兄弟姐妹患有的遗传性家族性痉挛性截瘫、构音障碍和皮肤病变综合征。
Dev Med Child Neurol. 1982 Aug;24(4):519-24. doi: 10.1111/j.1469-8749.1982.tb13659.x.
9
[From gene to disease; hypogonatrophic hypogonadism and anosmia: Kallmann's syndrome].
Ned Tijdschr Geneeskd. 2004 Jun 5;148(23):1142-4.
10
Hypogonadotropic hypogonadism with anosmia (Kallmann's syndrome) unresponsive to clomiphene citrate.对枸橼酸氯米芬无反应的伴有嗅觉缺失的低促性腺激素性性腺功能减退症（卡尔曼综合征）
J Clin Endocrinol Metab. 1970 Sep;31(3):267-70. doi: 10.1210/jcem-31-3-267.
引用本文的文献
1
Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.遗传性痉挛性截瘫：临床病理特征和新兴分子机制。
Acta Neuropathol. 2013 Sep;126(3):307-28. doi: 10.1007/s00401-013-1115-8. Epub 2013 Jul 30.
2
Hypogonadism and neurological diseases.性腺功能减退症与神经疾病。
Neurol Sci. 2013 May;34(5):629-38. doi: 10.1007/s10072-012-1278-4. Epub 2013 Jan 5.
3
Hereditary spastic paraparesis: a review of new developments.遗传性痉挛性截瘫：新进展综述
J Neurol Neurosurg Psychiatry. 2000 Aug;69(2):150-60. doi: 10.1136/jnnp.69.2.150.
4
Expression of the KAL gene in multiple neuronal sites during chicken development.鸡发育过程中KAL基因在多个神经位点的表达。
Proc Natl Acad Sci U S A. 1993 Mar 15;90(6):2461-5. doi: 10.1073/pnas.90.6.2461.
5
X linked spastic paraplegia (SPG2): clinical heterogeneity at a single gene locus.X连锁痉挛性截瘫（SPG2）：单个基因位点的临床异质性。
J Med Genet. 1993 May;30(5):381-4. doi: 10.1136/jmg.30.5.381.
本文引用的文献
1
[Spasmodic familial paraplegia with cerebellar disorders and vertical paralysis of the eyes; 2 brothers].[伴有小脑疾病和眼球垂直麻痹的痉挛性家族性截瘫；2名兄弟]
Rev Neurol (Paris). 1951 Feb;84(2):182-5.
2
[OLFACTO-GENITAL DYSPLASIA].[嗅觉 - 生殖器发育异常]
Pathol Biol. 1963 Nov;11:1267-72.
3
Familial hypogonadotrophic eunuchoidism with cerebellar ataxia.伴有小脑共济失调的家族性低促性腺激素性类无睾症。
J Clin Endocrinol Metab. 1963 Jan;23:107-15. doi: 10.1210/jcem-23-1-107.
4
Acute leukaemia and Klinefelter's syndrome.
Lancet. 1961 Aug 19;2(7199):434-5. doi: 10.1016/s0140-6736(61)92520-x.
5
Genetic aspects in male hypogonadism.男性性腺功能减退的遗传学方面
Recent Prog Horm Res. 1961;17:53-95.
6
Hereditary cerebral palsy; a preliminary report.
J Pediatr. 1957 Apr;50(4):454-8. doi: 10.1016/s0022-3476(57)80255-8.
7
Hereditary "pure" spastic paraplegia: a clinical and genetic study of 22 families.遗传性“单纯”痉挛性截瘫：22个家系的临床与遗传学研究
J Neurol Neurosurg Psychiatry. 1981 Oct;44(10):871-83. doi: 10.1136/jnnp.44.10.871.
8
Sex-linked spastic paraplegia.性连锁痉挛性截瘫
Am J Ment Defic. 1966 Jul;71(1):13-8.
9
Familial ataxia, hypogonadism and retinal degeneration.家族性共济失调、性腺功能减退和视网膜变性。
Acta Neurol Scand. 1969;45(4):507-10.
10
Familial hypogonadotropic hypogonadism with anosmia.伴有嗅觉缺失的家族性低促性腺激素性性腺功能减退症
Arch Intern Med. 1968 Jun;121(6):534-8.
Zotero 插件