Autosomal dominant motor system disease of the Portuguese

Rosenberg, Roger N.; Fowler, Hilton L.

doi:10.1212/wnl.31.9.1124

Cited by 25 publications

(7 citation statements)

References 0 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…A fourth (rare) subphenotype characterized by the presence of parkinsonian features, was also proposed. 24 This variable clinical presentation is partly explained by the length of the expanded allele. The inverse correlation observed between age at onset and (CAG) n length, however, is not sufficient to be applicable in presymptomatic testing.…”

Section: Discussionmentioning

confidence: 99%

Improvement in the Molecular Diagnosis of Machado-Joseph Disease

Costa²,

et al. 2001

View full text Add to dashboard Cite

show abstract

Section: Discussionmentioning

confidence: 99%

Improvement in the Molecular Diagnosis of Machado-Joseph Disease

Costa²,

et al. 2001

View full text Add to dashboard Cite

show abstract

“…Dystonia, most frequently crural, is a prominent feature of the Rett syndrome and included among the diagnostic criteria for this disorder [21,79]. In Machado-Joseph disease type I, dystonia is much more common than in other spinocerebellar degenerations, occurring in about 20% of cases, and most frequently involves the hands, feet, face or neck [71]. Dystonia manifests in about 50% of patients with ataxia telangiectasia, which may also be the sole clinical feature [3,57].…”

Section: Clinical Manifestationmentioning

confidence: 99%

Secondary dystonias

Hartmann

Pogarell

Oertel

1998

Journal of Neurology

View full text Add to dashboard Cite

Secondary or symptomatic dystonias are (1) often accompanied by other neurological deficits. (2) begin suddenly at rest and occur at rest from the onset, (3) are associated with different hereditary and environmental causes. From an aetiological point of view, secondary dystonias can be caused by focal brain lesions of various origin, neurodegenerative disorders, metabolic disorders of the central nervous system (CNS), and several drugs and chemicals that affect the basal ganglia, thalamus and brain stem. Furthermore, secondary (focal) dystonias can be caused by peripheral injury. In the following review, we will discuss epidemiology, genetics, pathogenesis, neuroimaging, neuropathology, clinical manifestation, clinical course and differential diagnosis of secondary dystonias. Therapeutic options are given depending on the aetiology and the topological type of dystonia.

show abstract

“…SCA3 was first described in 1972 in two American families of Portugese (Azorean) descent (105, 18 1). Rosenberg promoted the name "Machado-Joseph disease", the surnames of the first two known large Portugese kindreds, for this disease, which was felt for many years to be restricted to individuals of Portugese origin (134). Some authors thus defined a condition distinct from the original Portuguese families, with a more restricted, ataxia-dominant phenotype, and differentiated it from MJD, labelling it SCA3 (56.…”

Section: The Spinocerebellar Ataxiasmentioning

confidence: 99%

Clinical Aspects of CAG Repeat Diseases

Nance

1997

Brain Pathology

View full text Add to dashboard Cite

Seven neurodegenerative disorders are known to be caused by unstable expansions of the trinucleotide CAG within human genes, and more will be discovered in the coming years. These disorders share some clinical similarities, as well as some differences, which are summarized here. These diseases have unusual clinical genetic properties related to the dynamic nature of CAG repeat expansions, including instability of the repeat expansion in meiosis, particularly male meiosis; a strong correlation between onset age and size of the repeat expansion; anticipation (earlier disease onset in succeeding generations); new mutations arising from unstable, mutable alleles with a high-normal CAG repeat number; and reduced penetrance for alleles in the low-affected range. Much more remains to be learned about the molecular biology and clinical pathophysiology of this new class of genetic diseases.

show abstract

Autosomal dominant motor system disease of the Portuguese

Cited by 25 publications

References 0 publications

Improvement in the Molecular Diagnosis of Machado-Joseph Disease

Improvement in the Molecular Diagnosis of Machado-Joseph Disease

Secondary dystonias

Clinical Aspects of CAG Repeat Diseases

Contact Info

Product

Resources

About