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Neurologic Findings in Machado-Joseph Disease
Relation With Disease Duration, Subtypes, and
(CAG)n
Laura B. Jardim, PhD;
Maria L. Pereira, PhD;
Isabel Silveira, PhD;
Anabela Ferro;
Jorge Sequeiros, PhD;
Roberto Giugliani, PhD
Arch Neurol. 2001;58:899-904.
Context Machado-Joseph disease (MJD), an autosomal dominant spinocerebellar
degeneration caused by an expanded CAG repeat on chromosome 14q32.1, is a
heterogeneous disorder for clinical manifestations. The reasons for the wide
range of neurologic findings in this disease are poorly understood.
Objective To explain part of this heterogeneity through the association of the
neurologic findings with sex, disease duration, age of onset, clinical type,
and size of CAG repeat expansion.
Design A case-control study.
Setting Ambulatory care.
Patients A consecutive sample of 62 patients with MJD.
Main Outcome Measure Neurologic signs.
Results A direct relationship was found between the disease duration and severity
of gait and limb ataxia, dysarthria, dysphagia, fasciculations, pyramidal
syndrome, and ophthalmoplegia (P<.02). The most severe forms
of nuclear ophthalmoplegia were associated with type 1 MJD, whereas those
of supranuclear ophthalmoplegia were associated with type 3 MJD (P<.001).
It was also found that higher mean (CAG)n lengths were associated
with worse degrees of the pyramidal syndrome and dystonia (P<.001).
The presence and severity of nystagmus, eyelid retraction, rigidity and/or
bradykinesia, and optic atrophy were not clearly associated with any of the
predictive variables under study.
Conclusions Disease duration can explain part of the heterogeneity of ataxia, dysarthria,
dysphagia, fasciculations, pyramidal syndrome, and ophthalmoplegia, in MJD.
Type 1 MJD was positively associated with nuclear ophthalmoplegia; type 3
MJD was positively associated with supranuclear ophthalmoplegia. Higher mean
CAG lengths were found to correlate with the pyramidal syndrome and dystonia.
Nystagmus, eyelid retraction, rigidity and/or bradykinesia, and optic atrophy
were hardly attributable to any known reason or variable.
From the Medical Genetics Service, Hospital de Clínicas de Porto
Alegre, Porto Alegre, Brazil (Drs Jardim, Pereira, and Giugliani); Departments
of Internal Medicine (Dr Jardim), Biochemistry (Dr Pereira), and Genetics
(Dr Giugliani), Universidade Federal do Rio Grande do Sul, Porto Alegre; and
UniGENe, Instituto de Biologia Molecular e Celular, ICBAS, Universidade do
Porto, Porto, Portugal (Drs Silveira, and Sequeiros and Ms Ferro).
Corresponding author: Laura B. Jardim, MD, Medical Genetics Service,
Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos 2350, 90035-003
Porto Alegre, Brazil (e-mail: laurajardim{at}terra.com.br).
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