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Hexosaminidase A deficiency presenting as juvenile progressive dystonia.

作者信息

Hardie R J, Young E P, Morgan-Hughes J A

出版信息

J Neurol Neurosurg Psychiatry. 1988 Mar;51(3):446-7. doi: 10.1136/jnnp.51.3.446.

DOI:10.1136/jnnp.51.3.446
PMID:2966237
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1032879/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/92cc/1032879/548cd6f80e84/jnnpsyc00538-0123-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/92cc/1032879/548cd6f80e84/jnnpsyc00538-0123-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/92cc/1032879/548cd6f80e84/jnnpsyc00538-0123-a.jpg

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Hexosaminidase A deficiency presenting as juvenile progressive dystonia.表现为青少年进行性肌张力障碍的己糖胺酶A缺乏症。
J Neurol Neurosurg Psychiatry. 1988 Mar;51(3):446-7. doi: 10.1136/jnnp.51.3.446.
2
Dystonia in GM2 gangliosidosis.GM2神经节苷脂沉积症中的肌张力障碍。
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3
Late-onset hexosaminidase A and hexosaminidase A and B deficiency: family study and review.迟发性己糖胺酶A及己糖胺酶A和B缺乏症：家族研究与综述
Dev Med Child Neurol. 1986 Apr;28(2):236-43. doi: 10.1111/j.1469-8749.1986.tb03860.x.
4
[Hexosaminidase deficiency as differential spinocerebellar diseases].
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The juvenile and chronic forms of GM2 gangliosidosis: clinical and enzymatic heterogeneity.GM2神经节苷脂贮积症的幼年型和慢性型：临床与酶学异质性。
Neurology. 1990 Jan;40(1):145-50. doi: 10.1212/wnl.40.1.145.
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Hexosaminidase--pseudodeficiency?己糖胺酶——假缺陷？
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[Spinal muscular atrophy: a hexosaminidase A deficiency phenotype].[脊髓性肌萎缩症：一种己糖胺酶A缺乏表型]
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Neurodegeneration with Progressive Dystonia: Juvenile-Onset Tay-Sachs Disease.伴有进行性肌张力障碍的神经退行性变：青少年型泰-萨克斯病
Ann Indian Acad Neurol. 2022 Mar-Apr;25(2):324-325. doi: 10.4103/aian.aian_419_21. Epub 2022 May 17.
2
An insight into the biochemistry of inborn errors of metabolism for a clinical neurologist.临床神经科医生对先天性代谢缺陷生物化学的见解。
Ann Indian Acad Neurol. 2008 Apr;11(2):68-81. doi: 10.4103/0972-2327.41873.
3
The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported.

本文引用的文献

1
The clinical spectrum of hexosaminidase deficiency diseases.己糖胺酶缺乏症疾病的临床谱
Neurology. 1981 Nov;31(11):1453-6. doi: 10.1212/wnl.31.11.1453.
2
Juvenile spinal muscular atrophy: a new hexosaminidase deficiency phenotype.青少年脊髓性肌萎缩症：一种新的己糖胺酶缺乏表型。
Ann Neurol. 1982 Jan;11(1):11-6. doi: 10.1002/ana.410110103.
3
Juvenile progressive dystonia: a new phenotype of GM2 gangliosidosis.
Ann Neurol. 1984 Apr;15(4):348-52. doi: 10.1002/ana.410150408.
青少年或亚急性GM2神经节苷脂沉积症的自然病史：21例新病例及对134例既往报道病例的文献综述
Pediatrics. 2006 Nov;118(5):e1550-62. doi: 10.1542/peds.2006-0588. Epub 2006 Oct 2.
4
Inborn errors of metabolism as a cause of neurological disease in adults: an approach to investigation.成人神经系统疾病的代谢性先天性缺陷病因：调查方法
J Neurol Neurosurg Psychiatry. 2000 Jul;69(1):5-12. doi: 10.1136/jnnp.69.1.5.
5
Early and severe sensory loss in three adult siblings with hexosaminidase A and B deficiency (Sandhoff disease).三名患有己糖胺酶A和B缺乏症（桑德霍夫病）的成年兄弟姐妹出现早期严重感觉丧失。
J Neurol Neurosurg Psychiatry. 1995 Nov;59(5):520-3. doi: 10.1136/jnnp.59.5.520.
6
An adult onset hexosaminidase A deficiency syndrome with sensory neuropathy and internuclear ophthalmoplegia.一种伴有感觉神经病变和核间性眼肌麻痹的成人起病型己糖胺酶A缺乏综合征。
J Neurol Neurosurg Psychiatry. 1991 Dec;54(12):1112-3. doi: 10.1136/jnnp.54.12.1112.
4
Clinical and genetic variations in the syndrome of adult GM2 gangliosidosis resulting from hexosaminidase A deficiency.由己糖胺酶A缺乏导致的成人GM2神经节苷脂贮积症综合征的临床和遗传变异。
Ann Neurol. 1984 Jul;16(1):14-20. doi: 10.1002/ana.410160105.
5
Juvenile GM2-gangliosidosis. Clinical variant of Tay-Sachs disease or a new disease.青少年GM2神经节苷脂沉积症。泰-萨克斯病的临床变异型还是一种新疾病。
Neurology. 1970 Feb;20(2):190-204. doi: 10.1212/wnl.20.2.190.
6
Late onset GM2-gangliosidosis. Clinical, pathological, and biochemical studies on 8 patients.迟发性GM2神经节苷脂贮积症。8例患者的临床、病理及生化研究
Arch Dis Child. 1973 Oct;48(10):775-85. doi: 10.1136/adc.48.10.775.
7
Adult onset supranuclear ophthalmoplegia, cerebellar ataxia, and neurogenic proximal muscle weakness in a brother and sister: another hexosaminidase A deficiency syndrome.一对兄妹患成人起病的核上性眼肌麻痹、小脑共济失调和神经源性近端肌无力：另一种己糖胺酶A缺乏综合征
J Neurol Neurosurg Psychiatry. 1987 Jun;50(6):687-90. doi: 10.1136/jnnp.50.6.687.
8
Hexosaminidase-A deficiency presenting as atypical juvenile-onset spinal muscular atrophy.表现为非典型青少年型脊髓性肌萎缩症的己糖胺酶 A 缺乏症
Arch Neurol. 1985 Dec;42(12):1176-80. doi: 10.1001/archneur.1985.04060110058016.
9
A new juvenile hexosaminidase deficiency disease presenting as cerebellar ataxia. Clinical and biochemical studies.一种表现为小脑共济失调的新型青少年己糖胺酶缺乏症。临床与生化研究。
Neurology. 1977 Nov;27(11):1012-8. doi: 10.1212/wnl.27.11.1012.