This Article  • Full text  • PDF  • Reply to article  • Send to a friend  • Save in My Folder  • Save to citation manager  • Permissions  Citing Articles  • Citation map  • Citing articles on HighWire  • Citing articles on ISI (6)  • Contact me when this article is cited  Related Content  • Related articles  • Similar articles in this journal  Topic Collections  • Neuromuscular diseases  • Neurology, Other  • Alert me on articles by topic  Social Bookmarking   What's this?

Pekka Nokelainen, MD, PhD; Hannu Heiskala, MD, PhD; Anna-Elina Lehesjoki, MD, PhD; Markus Kaski, MD

Arch Neurol. 2000;57:1199-1203.

Background  Many inherited progressive encephalopathies have a poor outcome, and some are caused by repeat expansion mutations. How would the presence of 2 different expansion mutations affect the phenotype?

Objective  To describe a patient who has 2 distinct, rare genetic disorders: myotonic dystrophy (DM, OMIM 160900) and progressive myoclonus epilepsy of the Unverricht-Lundborg type (EPM1, OMIM 254800). Both conditions are caused by repeat expansion mutations. They affect the central nervous system causing mental retardation, but also produce a wide spectrum of disabilities in daily living.

Setting  Referral center.

Methods  Clinical description with accompanying photographs, electroencephalography and magnetic resonance imaging; DNA analysis of both of the mutations and chromosomal analysis with prometaphase spreads.

Results  The patient had clinical characteristics and findings of both myotonic dystrophy and progressive myoclonus epilepsy of the Unverricht-Lundborg type. Electroencephalographic recordings over a 3-year period showed typical findings for myoclonus epilepsy. The patient had no gross anomalies in brain magnetic resonance imaging. She had a normal karyotype, and both of the diagnoses were confirmed at the molecular level with the direct detection of the mutations.

Conclusions  Despite having 2 different progressive inherited disorders affecting the central nervous system, the patient, at age 28 years, showed only mild mental retardation with very slow progression. However, clear deterioration in activities of daily living has taken place during last 3 years.

From the Institute of Molecular Medicine, Department of Molecular Haematology, John Radcliffe Hospital, Headington, Oxford, England (Dr Nokelainen); the Rinnekoti Foundation, Espoo (Drs Heiskala and Kaski), the Department of Medical Genetics, University of Helsinki, and the Folkhälsan Institute of Genetics, Helsinki (Dr Lehesjoki), Finland.

CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati     What's this?

RELATED ARTICLES

Two Expanded Repeats in the Same Patient: An Effect on Phenotype?
William G. Johnson
Arch Neurol. 2000;57(8):1110-1112.
EXTRACT | FULL TEXT  

Archives of Neurology Reader's Choice: Continuing Medical Education
Arch Neurol. 2000;57(8):1241-1242.
FULL TEXT  

THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES

Coexistence of 2 Different Type I Repeats
Kageyama et al.
Arch Neurol 2001;58:1022-1022.
FULL TEXT  

Two Expanded Repeats in the Same Patient: An Effect on Phenotype?
Johnson
Arch Neurol 2000;57:1110-1112.
FULL TEXT