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

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

PARKIN as a pathogenic gene for autosomal recessive juvenile parkinsonism

2000 ◽  
pp. 19-30
Author(s):  
N. Shimizu ◽  
S. Asakawa ◽  
S. Minoshima ◽  
T. Kitada ◽  
N. Hattori ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Recessive Juvenile Parkinsonism ◽  
Juvenile Parkinsonism ◽  
Pathogenic Gene

First case report of medium-chain acyl-coenzyme A dehydrogenase deficiency in China

2015 ◽  
Vol 28 (5-6) ◽  
Author(s):  
CuiLi Liang ◽  
MinYan Jiang ◽  
HuiYing Sheng ◽  
YanNa Cai ◽  
DongYan Wu ◽  
...  
Keyword(s):  
Case Report ◽  
Inborn Error ◽  
Autosomal Recessive ◽  
Dehydrogenase Deficiency ◽  
Coenzyme A ◽  
Medium Chain ◽  
First Case ◽  
Mitochondrial Fatty Acid ◽  
Chain Acyl ◽  
Acyl Coenzyme A

AbstractMedium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD) is an autosomal recessive inborn error of mitochondrial fatty acid β-oxidation, caused by mutations in the

Autosomal recessive juvenile parkinsonism: A key to understanding nigral degeneration in sporadic Parkinson's disease

2000 ◽  
Vol 20 (s1) ◽  
pp. 85-90 ◽  
Author(s):  
Nobutaka Hattori ◽  
Hideki Shimura ◽  
Shin-ichiro Kubo ◽  
Tohru Kitada ◽  
Mei Wang ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Autosomal Recessive ◽  
Autosomal Recessive Juvenile Parkinsonism ◽  
Juvenile Parkinsonism ◽  
Sporadic Parkinson’S Disease ◽  
Nigral Degeneration

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 Case Report: Diabetes in Chinese Bloom Syndrome

2021 ◽  
Vol 12 ◽  
Author(s):  
Mingqun Deng ◽  
Miao Yu ◽  
Ruizhi Jiajue ◽  
Kai Feng ◽  
Xinhua Xiao
Keyword(s):  
Case Report ◽  
Chinese Population ◽  
Autosomal Recessive ◽  
Molecular Mechanisms ◽  
Autosomal Recessive Disorder ◽  
Bloom Syndrome ◽  
Clinical Spectrum ◽  
Sequence Variant ◽  
First Case ◽  
Helicase Gene

Bloom syndrome (BS) is a rare autosomal recessive disorder that causes several endocrine abnormalities. So far, only one BS pedigree, without diabetes, has been reported in the Chinese population. We presented the first case of BS with diabetes in the Chinese population and explored the clinical spectrum associated with endocrine. Possible molecular mechanisms were also investigated. Our study indicated that BS may be one rare cause of diabetes in the Chinese population. We also found a new pathogenic sequence variant in BLM (BLM RecQ like helicase gene)(NM_000057.4) c.692T>G, which may expand the spectrum of BLM variants.

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
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