Spinocerebellar ataxia with ocular motor apraxia and DNA repair

Neuropathology - Tập 26 Số 4 - Trang 361-367 - 2006
Osamu Onodera1
1Department of Molecular Neuroscience, Resource Branch for Brain Disease, Brain Research Institute, Niigata University, Japan.

Tóm tắt

At least four disorders, ataxia telangiectasia (AT), an ataxia‐telangiectasia‐like disorder, early‐onset ataxia with ocular motor apraxia and hypoalbuminemia (EAOH)/ataxia with oculomotor apraxia type 1 (AOA1), and ataxia with oculomotor apraxia type 2, are accompanied by ocular motor apraxia (OMA), which is an impairment of saccadic eye movement initiation. The characteristic pathological findings of EAOH/AOA1 and AT are a severe loss of Purkinje cells, severe myelin pallor of the posterior columns, and moderate neuronal loss in the dorsal root ganglia and anterior horn. Purkinje cells stimulate the fastigial nucleus and suppress omnipause neurons to initiate saccadic eye movement. The selective loss of Purkinje cells might cause OMA and disturb the cancellation of the vestibulo‐ocular reflex. These disorders have the following common clinical features: ataxia, involuntary movements, and peripheral neuronopathy. In addition, the causative genes for these disorders are associated with the DNA/RNA quality control system. The impairment of DNA/RNA integrity results in selective neuronal loss in these recessive‐inherited ataxias.

Từ khóa


Tài liệu tham khảo

10.1016/S0027-5107(02)00222-1

10.1038/ng1001-184

10.1038/ng1001-189

10.1016/j.dnarep.2004.06.017

10.1016/j.bbrc.2004.10.162

10.1093/hmg/ddh122

10.1002/ana.10808

10.1002/ana.410240404

10.1002/1531-8249(199909)46:3<287::AID-ANA3>3.0.CO;2-0

10.1093/brain/awh080

10.1016/j.dnarep.2004.04.009

Sedgwick RP, 1991, Handbook of Clinical Neurology, 347

Uekawa K, 1992, [A hereditary ataxia associated with hypoalbuminemia and hyperlipidemia – a variant form of Friedreich’s disease or a new clinical entity?], Rinsho Shinkeigaku, 32, 1067

10.1016/0022-510X(95)00176-3

Koike R, 1998, [Early onset ataxia associated with hypoalbuminemia.], Neurol Med, 48, 237

10.1002/ana.410440220

10.1016/j.dnarep.2004.12.008

10.1126/science.1108297

10.1126/science.1112069

10.1126/science.7792600

10.1038/ng1303

10.1001/archneur.58.2.201

Yokoseki A, 2002, [Clinical features of early onset ataxia with ocular motoe apraxia and hypoalbuminemia (EAOH).], Neurol Med, 57, 108

10.1093/brain/awg283

10.1016/S0387-7604(80)80049-0

10.1080/01658107.1992.11978666

10.1016/j.dnarep.2004.04.010

Lazarevich NL, 2000, Molecular mechanisms of alpha‐fetoprotein gene expression, Biochemistry (Mosc), 65, 117

10.1016/S0022-510X(98)00103-8

Nagata T, 2001, [An autopsy case of atypical Friedreich’s ataxia with chronic idiopathic intestinal pseudo‐obstruction.], Rinsho Shinkeigaku, 41, 412

Makifuchi T, 2002, [Pathology of early onset ataxia with ocular motor apraxia and hypoalbuminemia (EAOH).], Neurol Med, 57, 119

Kawasaki S, 1982, [Three cases of autosomal recessively inherited neuropathy with cerebellar ataxia, optic atrophy and hyperlipidemia.], Rinsho Shinkeigaku, 22, 15

10.1016/S1474-4422(05)70096-X

Leigh RJ, 1999, The Neurology of Eye Movements, 542

Leigh RJ, 1999, The Neurology of Eye Movements, 102

Leigh RJ, 1999, The Neurology of Eye Movements, 110

Leigh RJ, 1999, The Neurology of Eye Movements, 121

10.1152/jn.00150.2001

10.1080/14734220310016178

10.1152/jn.2000.84.3.1599

10.1002/(SICI)1097-4652(199911)181:2<179::AID-JCP1>3.0.CO;2-8

10.1093/emboj/cdf448

10.1002/bies.1063

10.1038/ng987

10.1016/j.dnarep.2004.04.011

10.1038/nature03314

Thông tin
Thông tin xuất bản

Neuropathology

Tập 26 Số 4

361-367

Thông tin tác giả