| | |  | | | | Record from Web of Science® | | | | | | |
| PATTERNS OF INHERITANCE OF THE SYMPTOMS OF HUNTINGTONS-DISEASE SUGGESTIVE OF AN EFFECT OF GENOMIC IMPRINTING |
|
|
| Author(s): RIDLEY RM, FRITH CD, FARRER LA, CONNEALLY PM |
| Source: JOURNAL OF MEDICAL GENETICS Volume: 28 Issue: 4 Pages: 224-231 Published: APR 1991 |
| Times Cited: 49 References: 37 |
| Abstract: The interaction of symptomatology (rigidity/chorea) in Huntington's disease (HD) with age of onset (AO) was examined using data from the Research Roster for Huntington's Disease Patients and Families. It was shown that AO varies between families and between paternal and maternal transmission and that rigidity is associated specifically with very early onset, major anticipation, paternal transmission, and young parental AO. It is proposed that AO depends on the state of methylation of the HD locus, which varies as a familial trait, and as a consequence of 'genomic imprinting' determined by parental transmission. Young familial AO and paternal imprinting interact to produce, occassionally, a major change in gene expression, that is, the early onset/rigid variant. |
| Document Type: Article |
| Language: English |
| Reprint Address: RIDLEY, RM (reprint author), NORTHWICK PK HOSP & CLIN RES CTR, CTR CLIN RES, DIV PSYCHIAT, WATFORD RD, HARROW HA1 3UJ, MIDDX ENGLAND |
Addresses:
1. BOSTON UNIV, SCH MED, DEPT NEUROL, BOSTON, MA 02118 USA
2. BOSTON UNIV, SCH MED, SCH PUBL HLTH, BOSTON, MA 02118 USA
3. HARVARD UNIV, SCH MED, DEPT NEUROL, BOSTON, MA 02115 USA
4. INDIANA UNIV, SCH MED, DEPT GENET MED, INDIANAPOLIS, IN 46202 USA |
| Publisher: BRITISH MED JOURNAL PUBL GROUP, BRITISH MED ASSOC HOUSE, TAVISTOCK SQUARE, LONDON, ENGLAND WC1H 9JR |
| Subject Category: Genetics & Heredity |
| IDS Number: FD304 |
| ISSN: 0022-2593 |
|
| | | | | | | | | Record from Web of Science® | | | | | | | | | |