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dihydroxyphenylalanine and Machado-Joseph Disease

dihydroxyphenylalanine has been researched along with Machado-Joseph Disease in 2 studies

Dihydroxyphenylalanine: A beta-hydroxylated derivative of phenylalanine. The D-form of dihydroxyphenylalanine has less physiologic activity than the L-form and is commonly used experimentally to determine whether the pharmacological effects of LEVODOPA are stereospecific.
dopa : A hydroxyphenylalanine carrying hydroxy substituents at positions 3 and 4 of the benzene ring.

Machado-Joseph Disease: A dominantly-inherited ATAXIA first described in people of Azorean and Portuguese descent, and subsequently identified in Brazil, Japan, China, and Australia. This disorder is classified as one of the SPINOCEREBELLAR ATAXIAS (Type 3) and has been associated with a mutation of the MJD1 gene on chromosome 14. Clinical features include progressive ataxia, DYSARTHRIA, postural instability, nystagmus, eyelid retraction, and facial FASCICULATIONS. DYSTONIA is prominent in younger patients (referred to as Type I Machado-Joseph Disease). Type II features ataxia and ocular signs; Type III features MUSCULAR ATROPHY and a sensorimotor neuropathy; and Type IV features extrapyramidal signs combined with a sensorimotor neuropathy. (From Clin Neurosci 1995;3(1):17-22; Ann Neurol 1998 Mar;43(3):288-96)

Research Excerpts

ExcerptRelevanceReference
"We performed [18F]6-fluoro-L-dopa (6-FD) and [11C]raclopride (RAC) PET studies in six patients with Machado-Joseph disease (MJD) (age, 17 to 61 years; duration of illness, 3 to 10 years), normal controls (n = 10 in 6-FD-PET, n = 8 in RAC-PET), and patients with idiopathic parkinsonism (n = 15 in 6-FD-PET)."7.69Fluorodopa and raclopride PET analysis of patients with Machado-Joseph disease. ( Calne, DB; Hashimoto, S; MacLeod, P; Rouleau, GA; Schulzer, M; Shinotoh, H; Silveira, I; Snow, BJ; Thiessen, B, 1997)
"We performed [18F]6-fluoro-L-dopa (6-FD) and [11C]raclopride (RAC) PET studies in six patients with Machado-Joseph disease (MJD) (age, 17 to 61 years; duration of illness, 3 to 10 years), normal controls (n = 10 in 6-FD-PET, n = 8 in RAC-PET), and patients with idiopathic parkinsonism (n = 15 in 6-FD-PET)."3.69Fluorodopa and raclopride PET analysis of patients with Machado-Joseph disease. ( Calne, DB; Hashimoto, S; MacLeod, P; Rouleau, GA; Schulzer, M; Shinotoh, H; Silveira, I; Snow, BJ; Thiessen, B, 1997)
"The subtype IV of Machado-Joseph disease (MJD), characterized by parkinsonism variably combined with ataxia, distal atrophy, and sensory loss, has been all but ignored in recent reports of MJD, including those describing the molecular biologic substrate of the disease."1.29Dopa-responsive parkinsonism phenotype of Machado-Joseph disease: confirmation of 14q CAG expansion. ( Lang, AE; Rogaeva, EA; St George-Hyslop, PH; Tuite, PJ, 1995)

Research

Studies (2)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's2 (100.00)18.2507
2000's0 (0.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Tuite, PJ1
Rogaeva, EA1
St George-Hyslop, PH1
Lang, AE1
Shinotoh, H1
Thiessen, B1
Snow, BJ1
Hashimoto, S1
MacLeod, P1
Silveira, I1
Rouleau, GA1
Schulzer, M1
Calne, DB1

Other Studies

2 other studies available for dihydroxyphenylalanine and Machado-Joseph Disease

ArticleYear
Dopa-responsive parkinsonism phenotype of Machado-Joseph disease: confirmation of 14q CAG expansion.
    Annals of neurology, 1995, Volume: 38, Issue:4

    Topics: Chromosomes, Human, Pair 14; Dihydroxyphenylalanine; DNA; Female; Humans; Machado-Joseph Disease; Ma

1995
Fluorodopa and raclopride PET analysis of patients with Machado-Joseph disease.
    Neurology, 1997, Volume: 49, Issue:4

    Topics: Adolescent; Adult; Caudate Nucleus; Cerebellum; Dihydroxyphenylalanine; Dopamine Antagonists; Female

1997