title: 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.
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 (99m)Tc-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 (99m)Tc-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.
authors.affiliation: Department of Neurology, Ataxia Unit, Universidade Federal de São Paulo, São Paulo, Brazil, jlpedroso.neuro@gmail.com.
authors.forename: José Luiz
authors.initials: JL
authors.lastname: Pedroso
authors.forename: Edson
authors.initials: E
authors.lastname: Bor-Seng-Shu
authors.forename: Pedro
authors.initials: P
authors.lastname: Braga-Neto
authors.forename: Rodrigo Souza
authors.initials: RS
authors.lastname: Ribeiro
authors.forename: Márcio Luiz Escorcio
authors.initials: ML
authors.lastname: Bezerra
authors.forename: Lucila B F
authors.initials: LB
authors.lastname: do Prado
authors.forename: Ilza Rosa
authors.initials: IR
authors.lastname: Batista
authors.forename: Helena
authors.initials: H
authors.lastname: Alessi
authors.forename: Manoel Jacobsen
authors.initials: MJ
authors.lastname: Teixeira
authors.forename: Gilberto Mastrocola
authors.initials: GM
authors.lastname: Manzano
authors.forename: Gilmar Fernandes
authors.initials: GF
authors.lastname: do Prado
authors.forename: Orlando Graziani Povoas
authors.initials: OG
authors.lastname: Barsottini
mesh_terms: D000328:Adult; D001921:Brain / Q000000981:diagnostic imaging / Q000473:pathology* / Q000503:physiopathology*; D004569:Electroencephalography; D006801:Humans; D017827:Machado-Joseph Disease / Q000150:complications* / Q000473:pathology*; D008297:Male; D009482:Neurophysiology; D015609:Organotechnetium Compounds; D017286:Polysomnography; D012893:Sleep Wake Disorders / Q000209:etiology*; D015899:Tomography, Emission-Computed, Single-Photon; D014326:Tropanes; D017585:Ultrasonography, Doppler, Transcranial; D058585:Vestibular Evoked Myogenic Potentials
chemical_list: D015609:Organotechnetium Compounds; D014326:Tropanes; C104196:technetium Tc 99m TRODAT-1