Juvenile onset Huntington disease resulting from a very large maternal expansion

✍ Scribed by F.A. Nahhas; J. Garbern; K.M. Krajewski; B.B. Roa; G.L. Feldman

• Publisher: John Wiley and Sons
• Year: 2005
• Tongue: English
• Weight: 102 KB
• Volume: 137A
• Category: Article
• ISSN: 1552-4825
• DOI: 10.1002/ajmg.a.30891

✦ Synopsis

Abstract

We report a 5½‐year‐old girl with a maternal family history of Huntington disease (HD), who presented clinically with unbalanced gait, impaired speech, and increasing difficulty with fine motor control. Onset of symptoms began at the age of 3½ years. The suspected diagnosis of juvenile HD, based upon her family history, was confirmed by DNA analysis. At age 7, the patient died secondary to complications of her underlying disorder. Juvenile‐onset Huntington disease is uncommon, predominantly transmitted by fathers and is always associated with very large expansions of the CAG repeat. Interestingly, this patient inherited a large CAG size expansion from her mother, who herself had symptoms of HD at the age of 18. Molecular analysis revealed that the mother had 70 CAG repeats whereas our patient had ∼130 CAG repeats. This is the largest reported CAG expansion from a maternal transmission that has been confirmed molecularly and it demonstrates that very large expansions can also occur through the maternal lineage. © 2005 Wiley‐Liss, Inc.