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

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

Author Pedroso, Jose Luiz Autor UNIFESP Google Scholar
Bor-Seng-Shu, Edson Google Scholar
Braga-Neto, Pedro Autor UNIFESP Google Scholar
Ribeiro, Rodrigo Souza Autor UNIFESP Google Scholar
Escorcio Bezerra, Marcio Luiz Autor UNIFESP Google Scholar
Prado, Lucila B. F. do Autor UNIFESP Google Scholar
Batista, Ilza Rosa Autor UNIFESP Google Scholar
Alessi, Helena Autor UNIFESP Google Scholar
Teixeira, Manoel Jacobsen Google Scholar
Manzano, Gilberto Mastrocola Autor UNIFESP Google Scholar
Prado, Gilmar Fernandes do Autor UNIFESP Google Scholar
Barsottini, Orlando Graziani Povoas Autor UNIFESP Google Scholar
Institution Universidade Federal de São Paulo (UNIFESP)
Hosp Israelita Albert Einstein
Universidade de São Paulo (USP)
Univ Estadual Ceara
Abstract 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 Tc-99m-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 Tc-99m-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.
Keywords Machado-Joseph disease
Pathophysiology
Polysomnography
Transcranial sonography
Vestibular-evoked myogenic potential
SPECT with Tc-99m-TRODAT-1
Language English
Date 2014-08-01
Published in Cerebellum. New York: Springer, v. 13, n. 4, p. 447-451, 2014.
ISSN 1473-4222 (Sherpa/Romeo, impact factor)
Publisher Springer
Extent 447-451
Origin http://dx.doi.org/10.1007/s12311-014-0553-8
Access rights Closed access
Type Article
Web of Science ID WOS:000338727300005
URI http://repositorio.unifesp.br/handle/11600/38039

Show full item record




File

File Size Format View

There are no files associated with this item.

This item appears in the following Collection(s)

Search


Browse

Statistics

My Account