Paralysis agitans of early onset with marked diurnal fluctuation of symptoms

Yamamura, Yuichi; Sobue, I; Ando, Kazuya; Iida, Mitsuo; Yanagi, Tsutomu; Kono, Chikao

doi:10.1212/wnl.23.3.239

Cited by 213 publications

(115 citation statements)

References 0 publications

Supporting

Mentioning

104

Contrasting

Unclassified

Order By: Relevance

“…Although the other 13 families originated from Niigata Prefecture, they were not related so far as we could determine. Clinical or neuropathological findings on the 13 families, except for family 455, have been described previously (Yamamura et al 1973;Tanaka et al 1987;Mizutani et al 1993;Takahashi et al 1994;Saito et al 1995;Ishikawa and Tsuji 1996;Takubo et al 1996;Matsumine et al 1997). Neuropathological findings were obtained in families 101 and 556, which demonstrated neuronal loss and gliosis in the medial and ventrolateral regions of the substantia nigra pars compacta.…”

Section: Ar-jp Familiesmentioning

confidence: 67%

“…Families with this condition have been described predominantly in the Japanese population, and the condition has occasionally been given different names, including an autosomal recessive early-onset parkinsonism with diurnal fluctuation (AR-EPDF) or a familial form of juvenile parkinsonism (Yamamura et al 1973;Kondo et al 1990;Mizutani et al 1993;Takubo et al 1996). Thus, there are considerable similarities in the clinical features of AR-JP with those of Parkinson's disease (PD), one of the most common neurodegenerative disorders, affecting more than 1% of the population over 55 years of age (de Rijk et al 1995).…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Refinement of the gene locus for autosomal recessive juvenile parkinsonism (AR-JP) on chromosome 6q25.2-27 and identification of markers exhibiting linkage disequilibrium

et al. 1998

View full text Add to dashboard Cite

Autosomal recessive juvenile parkinsonism (AR-JP) (MIM 600116) is a hereditary neurodegenerative disorder characterized by levodopa-responsive parkinsonism with a mean age at onset of 23.2 years. We recently mapped the AR-JP gene locus to a 17-cM interval on chromosome 6q25.2-27. To further narrow the candidate region of the AR-JP gene, we performed detailed linkage analysis using densely placed genetic markers in this region (D6S437, D6S1581, D6S1579, D6S305, D6S411, SOD2, D6S253, D6S1599, D6S1719 and D6S264). Pairwise linkage analysis revealed the highest cumulative maximal lod score of 9.13 at D6S1579 (θ␣ ϭ␣ 0.05), and multipoint linkage analysis revealed the highest cumulative lod score of 12.4 at the locus 3␣ cM telomeric to D6S1599. Observation of obligate recombination events narrowed the candidate region to a 13-cM region between D6S1579 and D6S264. Furthermore, we identified two marker loci, D6S1579 and D6S1599, which exhibit strong linkage disequilibrium with the AR-JP locus:2 (2␣ ϫ␣ n

show abstract

Section: Ar-jp Familiesmentioning

confidence: 67%

Section: Introductionmentioning

confidence: 99%

Refinement of the gene locus for autosomal recessive juvenile parkinsonism (AR-JP) on chromosome 6q25.2-27 and identification of markers exhibiting linkage disequilibrium

et al. 1998

View full text Add to dashboard Cite

show abstract

“…PARK2-linked EOPD is characterized by a spontaneous improvement after sleep or a nap, diurnal fluctuation, some dystonic features which are predominantly in the foot, good response to levodopa, early onset (average age of onset is in the twenties), no dementia, no autonomic failure, and lack of Lewy bodies (Yamamura et al 1973, Mori et al 1998. The clinical features of PARK2-linked EOPD are distinguishable from those of patients with the common form of PD.…”

Section: Pink1/parkin Pathwaymentioning

confidence: 99%

Etiology and Pathogenesis of Parkinson’s Disease

Hatano¹

2011

Etiology and Pathophysiology of Parkinson's Disease

View full text Add to dashboard Cite

“…Clinical features were first described by Yamamura et al in 1973. The usual age of onset is between 20 and 40, but it can be before 10 years and above 60 years.…”

Section: Progress In Familial Pdmentioning

confidence: 99%

Progress in the pathogenesis and genetics of Parkinson's disease

Mizuno

Hattori

Kubo

et al. 2008

Phil. Trans. R. Soc. B

View full text Add to dashboard Cite

Recent progresses in the pathogenesis of sporadic Parkinson's disease (PD) and genetics of familial PD are reviewed. There are common molecular events between sporadic and familial PD, particularly between sporadic PD and PARK1-linked PD due to a-synuclein (SNCA) mutations. In sporadic form, interaction of genetic predisposition and environmental factors is probably a primary event inducing mitochondrial dysfunction and oxidative damage resulting in oligomer and aggregate formations of a-synuclein. In PARK1-linked PD, mutant a-synuclein proteins initiate the disease process as they have increased tendency for self-aggregation. As highly phosphorylated aggregated proteins are deposited in nigral neurons in PD, dysfunctions of proteolytic systems, i.e. the ubiquitin-proteasome system and autophagy-lysosomal pathway, seem to be contributing to the final neurodegenerative process. Studies on the molecular mechanisms of nigral neuronal death in familial forms of PD will contribute further on the understanding of the pathogenesis of sporadic PD.

show abstract

Paralysis agitans of early onset with marked diurnal fluctuation of symptoms

Cited by 213 publications

References 0 publications

Refinement of the gene locus for autosomal recessive juvenile parkinsonism (AR-JP) on chromosome 6q25.2-27 and identification of markers exhibiting linkage disequilibrium

Refinement of the gene locus for autosomal recessive juvenile parkinsonism (AR-JP) on chromosome 6q25.2-27 and identification of markers exhibiting linkage disequilibrium

Etiology and Pathogenesis of Parkinson’s Disease

Progress in the pathogenesis and genetics of Parkinson's disease

Contact Info

Product

Resources

About