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| ANTICIPATION IN HEREDITARY DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY |
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| Author(s): SANO A, YAMAUCHI N, KAKIMOTO Y, KOMURE O, KAWAI J, HAZAMA F, KUZUME K, SANO N, KONDO I |
| Source: HUMAN GENETICS Volume: 93 Issue: 6 Pages: 699-702 Published: JUN 1994 |
| Times Cited: 25 References: 19 |
| Abstract: Anticipation refers to the progressively earlier onset and increase in disease severity in successive generations. We studied four families with hereditary dentatorubral-pallidoluysian atrophy (DRPLA), a neurodegenerative disease, and anticipation was present in the mode of inheritance. In subsequent generations DRPLA shows an earlier onset and more severe as well as additional symptoms. Older onset patients suffer from cerebellar ataxia with or without dementia, whereas younger onset patients present as progressive myoclonus epilepsy syndrome, which consists of mental retardation, dementia, and cerebellar ataxia as well as epilepsy and myoclonus. Anticipation with paternal transmission was significantly greater than with maternal transmission. |
| Document Type: Note |
| Language: English |
| Reprint Address: SANO, A (reprint author), EHIME UNIV, SCH MED, DEPT NEUROPSYCHIAT, SHIGENOBU, EHIME 79102 JAPAN |
Addresses:
1. EHIME UNIV, SCH MED, DEPT HYG, SHIGENOBU, EHIME 79102 JAPAN
2. NATL UTANO HOSP, DEPT NEUROL, UKYO KU, KYOTO, KYOTO 616 JAPAN
3. SHIGA UNIV MED SCI, DEPT PATHOL, OTSU, SHIGA 52021 JAPAN
4. EHIME NATL HOSP, DEPT PEDIAT, SHIGENOBU, EHIME 79102 JAPAN |
| Publisher: SPRINGER VERLAG, 175 FIFTH AVE, NEW YORK, NY 10010 |
| Subject Category: Genetics & Heredity |
| IDS Number: NP565 |
| ISSN: 0340-6717 |
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| | | | | | | | | Record from Web of Science® | | | | | | | | | |