Familial cortical tremor with epilepsy and cerebellar pathological findings

被引：42

作者：

van Rootselaar, AF

Aronica, E

Steur, ENHJ

Rozemuller-Kwakkel, JM

de Vos, RAI

Tijssen, MAJ

机构：

[1] Univ Amsterdam, Acad Med Ctr, Dept Neurol, NL-1100 DD Amsterdam, Netherlands

[2] Univ Amsterdam, Acad Med Ctr, Dept Neuropathol, NL-1105 AZ Amsterdam, Netherlands

[3] Stichting Epilepsie Instellingen Nederland, Heemstede, Netherlands

[4] Med Spectrum Twente, Dept Neurol, Enschede, Netherlands

[5] Dept Pathol, Lab Pathol Oost, Enschede, Netherlands

来源：

MOVEMENT DISORDERS | 2004年 / 19卷 / 02期

关键词：

cortical tremor; myoclonus; epilepsy; neuropathology;

D O I：

10.1002/mds.10662

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The clinical and neuropathological findings in a patient with familial cortical tremor with epilepsy (FCTE) are described. Clinically, the patient showed cortical myoclonus, tremor, and generalized seizures. Pathological investigation showed cerebellar degeneration and somal sprouting and loss of dendritic tree in Purkinje cells. Striking similarities were found in diseases caused by channelopathies such as spinocerebellar ataxia subtype 6. (C) 2003 Movement Disorder Society

引用

页码：213 / 217

页数：5

共 20 条

[1] Brain neurotoxicity of penitrem A: Electrophysiological, behavioral and histopathological study
Breton, P
Bizot, JC
Buee, J
De la Manche, I
[J]. TOXICON, 1998, 36 (04) : 645 - 655
[2] Activation mapping in essential tremor with functional magnetic resonance imaging
Bucher, SF
Seelos, KC
Dodel, RC
Reiser, M
Oertel, WH
[J]. ANNALS OF NEUROLOGY, 1997, 41 (01) : 32 - 40
[3] Patterns of cerebellar atrophy in patients with chronic epilepsy: a quantitative neuropathological study
Crooks, R
Mitchell, T
Thom, M
[J]. EPILEPSY RESEARCH, 2000, 41 (01) : 63 - 73
[4] Familial cortical tremor, epilepsy, and mental retardation -: A distinct clinical entity?
Elia, M
Musumeci, SA
Ferri, R
Scuderi, C
Del Gracco, S
Bottitta, M
Michelucci, R
Tassinari, CA
[J]. ARCHIVES OF NEUROLOGY, 1998, 55 (12) : 1569 - 1573
[5] THE PURKINJE-CELL IN OLIVOPONTOCEREBELLAR ATROPHY - A GOLGI AND IMMUNOCYTOCHEMICAL STUDY
FERRER, I
GENIS, D
DAVALOS, A
BERNADO, L
SANT, F
SERRANO, T
[J]. NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY, 1994, 20 (01) : 38 - 46
[6] Autosomal dominant cortical myoclonus and epilepsy (ADCME) with complex partial and generalized seizures - A newly recognized epilepsy syndrome with linkage to chromosome 2p11,1-q.12.2
Guerrini, R
Bonanni, P
Patrignani, A
Brown, P
Parmeggiani, L
Grosse, P
Brovedani, P
Moro, F
Aridon, P
Carrozzo, R
Casari, G
[J]. BRAIN, 2001, 124 : 2459 - 2475
[7] CORTICAL TREMOR - A VARIANT OF CORTICAL REFLEX MYOCLONUS
IKEDA, A
KAKIGI, R
FUNAI, N
NESHIGE, R
KURODA, Y
SHIBASAKI, H
[J]. NEUROLOGY, 1990, 40 (10) : 1561 - 1565
[8] CALBINDIN-D 28K IMMUNOREACTIVITY IN THE CEREBELLUM OF SPINOCEREBELLAR DEGENERATION
ISHIKAWA, K
MIZUSAWA, H
FUJITA, T
OHKOSHI, N
DOI, M
KOMATSUZAKI, Y
IWAMOTO, H
OGATA, T
SHOJI, S
[J]. JOURNAL OF THE NEUROLOGICAL SCIENCES, 1995, 129 (02) : 179 - 185
[9] Clinical, neuropathological, and molecular study in two families with spinocerebellar ataxia type 6 (SCA6)
Ishikawa, K
Watanabe, M
Yoshizawa, K
Fujita, T
Iwamoto, H
Yoshizawa, T
Harada, K
Nakamagoe, K
Komatsuzaki, Y
Satoh, A
Doi, M
Ogata, T
Kanazawa, I
Shoji, S
Mizusawa, H
[J]. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 1999, 67 (01) : 86 - 89
[10] KUDO T, 1990, JPN J PSYCHIAT NEUR, V44, P436

← 1 2 →