Neurophysiological Studies and Non-Motor Symptoms Prior to Ataxia in a Patient with Machado–Joseph Disease: Trying to Understand the Natural History of Brain Degeneration
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- 作者：José Luiz Pedroso (1) (2)
Edson Bor-Seng-Shu (3)
Pedro Braga-Neto (1) (4)
Rodrigo Souza Ribeiro (1)
Márcio Luiz Escorcio Bezerra (1)
Lucila B. F. do Prado (1)
Ilza Rosa Batista (2) (5)
Helena Alessi (6)
Manoel Jacobsen Teixeira (3)
Gilberto Mastrocola Manzano (1)
Gilmar Fernandes do Prado (1)
Orlando Graziani Povoas Barsottini (1) (2) - 关键词：Machado–Joseph disease ; Pathophysiology ; Polysomnography ; Transcranial sonography ; Vestibular ; evoked myogenic potential ; SPECT with 99mTc ; TRODAT ; 1
- 刊名：The Cerebellum
- 出版年：2014
- 出版时间：August 2014
- 年：2014
- 卷：13
- 期：4
- 页码：447-451
- 全文大小：518 KB
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23. Braga-Neto P, Almeida Dutra L, Pedroso JL, Barsottini OG. Cognitive dysfunction in spinocerebellar ataxia type 3: variable topographies and patterns. Mov Disord 2013 Dec 11 [Epub ahead of print]. - 作者单位：José Luiz Pedroso (1) (2)
Edson Bor-Seng-Shu (3)
Pedro Braga-Neto (1) (4)
Rodrigo Souza Ribeiro (1)
Márcio Luiz Escorcio Bezerra (1)
Lucila B. F. do Prado (1)
Ilza Rosa Batista (2) (5)
Helena Alessi (6)
Manoel Jacobsen Teixeira (3)
Gilberto Mastrocola Manzano (1)
Gilmar Fernandes do Prado (1)
Orlando Graziani Povoas Barsottini (1) (2)
1. Department of Neurology, Ataxia Unit, Universidade Federal de S?o Paulo, S?o Paulo, Brazil
2. Hospital Israelita Albert Einstein, S?o Paulo, Brazil
3. Department of Clinical Neurosurgery, Universidade de S?o Paulo, S?o Paulo, Brazil
4. Center of Health Sciences, Universidade Estadual do Ceará, Fortaleza, Ceará, Brazil
5. Department of Psychiatry, Universidade Federal de S?o Paulo, S?o Paulo, Brazil
6. Department of Neurology, Behavior Neurology Section, Universidade Federal de S?o Paulo, S?o Paulo, Brazil - ISSN：1473-4230
文摘
Spinocerebellar ataxia type 3 or Machado–Joseph disease is the most common spinocerebellar ataxia. In this neurological disease, anatomical, physiological, clinical, and functional neuroimaging demonstrate a degenerative process besides the cerebellum. We performed neurophysiological and neuroimaging studies—polysomnography, transcranial sonography, vestibular-evoked myogenic potential, single-photon emission computed tomography (SPECT) with 99mTc-TRODAT-1, and a formal neuropsychological evaluation in a patient with sleep complaints and positive testing for Machado–Joseph disease, without cerebellar atrophy, ataxia, or cognitive complaints. Polysomnography disclosed paradoxical high amplitude of submental muscle, characterizing REM sleep without atonia phenomenon. Transcranial sonography showed hyperechogenicity of the substantia nigra. There was an absence of vestibular-evoked myogenic potentials on both sides in the patient under study, in opposite to 20 healthy subjects. Brain imaging SPECT with 99mTc-TRODAT-1 demonstrated a significant lower DAT density than the average observed in six healthy controls. Electroneuromyography was normal. Neuropsychological evaluation demonstrated visuospatial and memory deficits. Impairment of midbrain cholinergic and pontine noradrenergic systems, dysfunction of the pre-synaptic nigrostriatal system, changes in echogenicity of the substantia nigra, and damage to vestibulo-cervical pathways are supposed to occur previous to cerebellar involvement in Machado–Joseph disease.