PMID- 10203348
OWN - NLM
STAT- MEDLINE
DCOM- 19990603
LR  - 20190718
IS  - 0959-4965 (Print)
IS  - 0959-4965 (Linking)
VI  - 10
IP  - 2
DP  - 1999 Feb 5
TI  - Low frequency of pathogenic mutations in the ubiquitin carboxy-terminal hydrolase
      gene in familial Parkinson's disease.
PG  - 427-9
AB  - A coding substitution (I93M) in the ubiquitin carboxy-terminal L1 (UCH-L1) gene
      has recently been identified in a German family with Parkinson's disease. We have
      sequenced the entire coding region of the gene in 11 families who have a pattern 
      of disease consistent with autosomal dominant inheritance. We found a
      polymorphism (S18Y) in exon 3, two polymorphisms in the 5' non-coding region,
      upstream of the transcription start, and an insertion/deletion polymorphism in
      intron 4. The S18Y allele is present on approximately 20% of chromosomes in a
      Caucasian population. These changes are, therefore, unlikely to be pathogenic. We
      conclude that the I93M variant must either be a rare cause of disease or a
      harmless substitution whose occurrence in the family reflects a chance
      co-occurrence.
FAU - Lincoln, S
AU  - Lincoln S
AD  - Mayo Clinic Jacksonville, FL 32224, USA.
FAU - Vaughan, J
AU  - Vaughan J
FAU - Wood, N
AU  - Wood N
FAU - Baker, M
AU  - Baker M
FAU - Adamson, J
AU  - Adamson J
FAU - Gwinn-Hardy, K
AU  - Gwinn-Hardy K
FAU - Lynch, T
AU  - Lynch T
FAU - Hardy, J
AU  - Hardy J
FAU - Farrer, M
AU  - Farrer M
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Neuroreport
JT  - Neuroreport
JID - 9100935
RN  - EC 3.1.2.- (Thiolester Hydrolases)
RN  - EC 3.4.19.12 (Ubiquitin Thiolesterase)
SB  - IM
MH  - Adult
MH  - Aged
MH  - Alleles
MH  - Female
MH  - Gene Frequency
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - Mutation/*physiology
MH  - Parkinson Disease/*genetics
MH  - Polymorphism, Genetic/genetics
MH  - Reference Values
MH  - Thiolester Hydrolases/*genetics
MH  - Ubiquitin Thiolesterase
EDAT- 1999/04/15 00:00
MHDA- 1999/04/15 00:01
CRDT- 1999/04/15 00:00
PHST- 1999/04/15 00:00 [pubmed]
PHST- 1999/04/15 00:01 [medline]
PHST- 1999/04/15 00:00 [entrez]
AID - 10.1097/00001756-199902050-00040 [doi]
PST - ppublish
SO  - Neuroreport. 1999 Feb 5;10(2):427-9. doi: 10.1097/00001756-199902050-00040.