伴有周围神经病变的家族性锥体外系疾病。
Familial extrapyramidal disease with peripheral neuropathy.
作者信息
Byrne E, Thomas P K, Zilkha K J
出版信息
J Neurol Neurosurg Psychiatry. 1982 Apr;45(4):372-4. doi: 10.1136/jnnp.45.4.372.
Abstract
A family is presented in which 10 members over three generations developed a Parkinsonian syndrome. Two siblings had additional clinical and electrophysiological evidence of an associated peripheral neuropathy and sural nerve biopsy in one case revealed axonal loss. This is the third family reported in the literature in which an extrapyramidal syndrome is associated with neuropathy, but differs from earlier reports in that neuropathic involvement was due to axonal degeneration rather than segmental demyelination.
摘要
本文报告了一个家族，其中三代人中的10名成员患上了帕金森综合征。两名兄弟姐妹有额外的临床和电生理证据表明存在相关的周围神经病变，其中一例的腓肠神经活检显示有轴突丧失。这是文献中报道的第三个家族，其中锥体外系综合征与神经病变相关，但与早期报告不同的是，神经病变是由于轴突变性而非节段性脱髓鞘所致。
相似文献
1
Familial extrapyramidal disease with peripheral neuropathy.伴有周围神经病变的家族性锥体外系疾病。
J Neurol Neurosurg Psychiatry. 1982 Apr;45(4):372-4. doi: 10.1136/jnnp.45.4.372.
2
Familial amyloidosis with cranial neuropathy and corneal lattice dystrophy.伴有颅神经病变和角膜格子状营养不良的家族性淀粉样变性
J Neurol Neurosurg Psychiatry. 1979 Nov;42(11):1020-30. doi: 10.1136/jnnp.42.11.1020.
3
Giant axonal neuropathy. A clinical entity affecting the central as well as the peripheral nervous system.巨轴索神经病。一种影响中枢神经系统和周围神经系统的临床病症。
Neurology. 1975 Aug;25(8):717-21. doi: 10.1212/wnl.25.8.717.
4
Giant axonal swelling in "huffer's" neuropathy.
Arch Neurol. 1976 Aug;33(8):583-6. doi: 10.1001/archneur.1976.00500080061010.
5
Familial multiple symmetric lipomatosis with peripheral neuropathy.家族性多发性对称性脂肪瘤病伴周围神经病变。
Neurology. 1990 Aug;40(8):1246-50. doi: 10.1212/wnl.40.8.1246.
6
Tomaculous neuropathy: hereditary predisposition to pressure palsies.
Aust N Z J Med. 1985 Oct;15(5):598-603.
7
Neuropathy due to podophyllin intoxication.鬼臼毒素中毒所致神经病变
J Neurol. 1990 Apr;237(2):110-2. doi: 10.1007/BF00314673.
8
Peripheral neuropathy in Marinesco-Sjögren syndrome.
Brain Dev. 1981;3(4):403-6. doi: 10.1016/s0387-7604(81)80069-1.
9
Peripheral neuropathy and 46XY gonadal dysgenesis: a heterogeneous entity.周围神经病变与46XY性腺发育不全：一种异质性疾病。
Neuromuscul Disord. 2009 Feb;19(2):172-5. doi: 10.1016/j.nmd.2008.11.006. Epub 2009 Jan 22.
10
A novel recessive Nefl mutation causes a severe, early-onset axonal neuropathy.一种新的隐性 Nefl 突变导致严重的、早发性轴索性神经病。
Ann Neurol. 2009 Dec;66(6):759-70. doi: 10.1002/ana.21728.
引用本文的文献
1
Tremor-spectrum in spinocerebellar ataxia type 3.脊髓小脑性共济失调 3 型的震颤频谱。
J Neurol. 2012 Nov;259(11):2460-70. doi: 10.1007/s00415-012-6531-5. Epub 2012 May 17.
2
Clinical aspects of CAG repeat diseases.CAG重复序列疾病的临床方面。
Brain Pathol. 1997 Jul;7(3):881-900. doi: 10.1111/j.1750-3639.1997.tb00892.x.
3
Familial disorder of the central and peripheral nervous systems with particular cytoplasmic lamellated inclusions in peripheral nerves, muscle satellite cells, and blood capillaries.中枢和周围神经系统的家族性疾病，在外周神经、肌肉卫星细胞和血管中存在特殊的胞质层状包涵体。
Acta Neuropathol. 1985;68(3):209-17. doi: 10.1007/BF00690197.
本文引用的文献
1
Progressive Muscular Atrophy associated with Paralysis Agitans.进行性肌萎缩伴震颤麻痹
Proc R Soc Med. 1938 Jan;31(3):211-2. doi: 10.1177/003591573803100310.
2
[Parkinson's syndrome with amyotrophia resembling lateral amyotrophic sclerosis and of post-traumatic origin].[具有类似侧索肌萎缩性硬化症且源于创伤后的肌萎缩的帕金森综合征]
Acta Neurol Psychiatr Belg. 1951 Mar;51(3):194-205.
3
Discussion on motor neurone disease.
Proc R Soc Med. 1962 Dec;55:1028-9.
4
Report of familial cases of parkinsonism. Evidence of a dominant trait in a patient's family.
JAMA. 1962 Feb 3;179:372-4. doi: 10.1001/jama.1962.03050050062014.
5
[Simultaneous evolution in the same patient of Parkinson's disease and amyotrophic lateral sclerosis].[帕金森病与肌萎缩侧索硬化症在同一患者体内的同时演变]
Rev Neurol (Paris). 1959 Jul;101:63-6.
6
neural muscle atrophy with degeneration of the substantia nigra.伴有黑质变性的神经肌肉萎缩
Confin Neurol. 1955;15(3):142-53. doi: 10.1159/000105356.
7
Tabes of Friedreich with degeneration of the substantia nigra, a special type of hereditary parkinsonism.伴有黑质变性的弗里德赖希共济失调，一种特殊类型的遗传性帕金森病。
Confin Neurol. 1955;15(3):129-42. doi: 10.1159/000105355.
8
[Typical amyotrophic lateral sclerosis and hereditary paralysis agitans in the same family with the possibility of a form transitional between the two].[同一家族中典型的肌萎缩侧索硬化症和遗传性帕金森震颤麻痹，两者之间可能存在一种过渡形式]
Monatsschr Psychiatr Neurol. 1954 Apr-May;127(4-5):185-203.
9
Post-encephalitic parkinsonism with amyotrophy.脑炎后帕金森综合征伴肌萎缩
J Neurol Neurosurg Psychiatry. 1954 Feb;17(1):50-6. doi: 10.1136/jnnp.17.1.50.
10
The incidence of abnormality in control human peripheral nerves studied by single axon dissection.通过单轴突解剖研究的对照人类周围神经中的异常发生率。
J Neurol Neurosurg Psychiatry. 1970 Feb;33(1):55-61. doi: 10.1136/jnnp.33.1.55.
Zotero 插件