Clinical and neuropathological aspects of autosomal recessive juvenile parkinsonism

1998 ◽  
Vol 245 (S3) ◽  
pp. P4-P9 ◽  
Author(s):  
A. Ishikawa ◽  
Hitoshi Takahashi
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Recessive Juvenile Parkinsonism ◽  
Juvenile Parkinsonism

scholarly journals Successful twin pregnancy in a patient with parkin-associated autosomal recessive juvenile parkinsonism

BMC Neurology ◽  
2011 ◽  
Vol 11 (1) ◽  
Author(s):  
Takehiro Serikawa ◽  
Takayoshi Shimohata ◽  
Mami Akashi ◽  
Akio Yokoseki ◽  
Miwa Tsuchiya ◽  
...  
Keyword(s):  
Twin Pregnancy ◽  
Autosomal Recessive ◽  
Autosomal Recessive Juvenile Parkinsonism ◽  
Juvenile Parkinsonism

Preserved myocardial [123 I]metaiodobenzylguanidine uptake in autosomal recessive juvenile parkinsonism: First case report

2005 ◽  
Vol 20 (5) ◽  
pp. 634-636 ◽  
Author(s):  
Masahiko Suzuki ◽  
Nobutaka Hattori ◽  
Satoshi Orimo ◽  
Nobuyoshi Fukumitsu ◽  
Masahiro Abo ◽  
...  
Keyword(s):  
Case Report ◽  
Autosomal Recessive ◽  
Autosomal Recessive Juvenile Parkinsonism ◽  
Juvenile Parkinsonism ◽  
First Case

Characterization of FRA6E and its potential role in autosomal recessive juvenile parkinsonism and ovarian cancer

2003 ◽  
Vol 38 (1) ◽  
pp. 40-52 ◽  
Author(s):  
Stacy R. Denison ◽  
Gwen Callahan ◽  
Nicole A. Becker ◽  
Leslie A. Phillips ◽  
David I. Smith
Keyword(s):  
Ovarian Cancer ◽  
Autosomal Recessive ◽  
Potential Role ◽  
Autosomal Recessive Juvenile Parkinsonism ◽  
Juvenile Parkinsonism

scholarly journals Inhibition of Proteasomal Activity Causes Inclusion Formation in Neuronal and Non-Neuronal Cells Overexpressing Parkin

2003 ◽  
Vol 14 (11) ◽  
pp. 4541-4556 ◽  
Author(s):  
Helen C. Ardley ◽  
Gina B. Scott ◽  
Stephen A. Rose ◽  
Nancy G. S. Tan ◽  
Alexander F. Markham ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Disease Onset ◽  
Lewy Bodies ◽  
26S Proteasome ◽  
Contributory Factor ◽  
Proteasomal Activity ◽  
Polyglutamine Disorders ◽  
Autosomal Recessive Juvenile Parkinsonism ◽  
Juvenile Parkinsonism ◽  
Sporadic Disease

Association between protein inclusions and neurodegenerative diseases, including Parkinson's and Alzheimer's diseases, and polyglutamine disorders, has been widely documented. Although ubiquitin is conjugated to many of these aggregated proteins, the 26S proteasome does not efficiently degrade them. Mutations in the ubiquitin-protein ligase Parkin are associated with autosomal recessive juvenile Parkinsonism. Although Parkin-positive inclusions are not detected in brains of autosomal recessive juvenile Parkinsonism patients, Parkin is found in Lewy bodies in sporadic disease. This suggests that loss of Parkin ligase activity via mutation, or sequestration to Lewy bodies, is a contributory factor to sporadic disease onset. We now demonstrate that decreased proteasomal activity causes formation of large, noncytotoxic inclusions within the cytoplasm of both neuronal and nonneuronal cells overexpressing Parkin. This is not a general phenomenon as there is an absence of similar inclusions when HHARI, a structural homolog of Parkin, is overexpressed. The inclusions colocalize with ubiquitin and with proteasomes. Furthermore, Parkin inclusions colocalize with γ-tubulin, acetylated α-tubulin, and cause redistribution of vimentin, suggesting aggresome-like properties. Our data imply that lower proteasomal activity, previously observed in brain tissue of Parkinson's disease patients, leads to Parkin accumulation and a concomitant reduction in ligase activity, thereby promoting Lewy body formation.

A Microdeletion of D6S305 in a Family of Autosomal Recessive Juvenile Parkinsonism (PARK2)

Genomics ◽  
1998 ◽  
Vol 49 (1) ◽  
pp. 143-146 ◽  
Author(s):  
Hiroto Matsumine ◽  
Yasuhiro Yamamura ◽  
Nobutaka Hattori ◽  
Tomonori Kobayashi ◽  
Tohru Kitada ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Recessive Juvenile Parkinsonism ◽  
Juvenile Parkinsonism

Iron accumulation in the substantia nigra of autosomal recessive juvenile parkinsonism (ARJP)

2001 ◽  
Vol 7 (4) ◽  
pp. 311-314 ◽  
Author(s):  
Masashi Takanashi ◽  
Hideki Mochizuki ◽  
Kazuko Yokomizo ◽  
Nobutaka Hattori ◽  
Hideo Mori ◽  
...  
Keyword(s):  
Substantia Nigra ◽  
Autosomal Recessive ◽  
Iron Accumulation ◽  
Autosomal Recessive Juvenile Parkinsonism ◽  
Juvenile Parkinsonism
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