FRIDAY, June 22 (HealthDay News) -- Cognitive and psychiatric problems are common early symptoms of juvenile Huntington disease, rather than motor rigidity, which can lead to years of delay before the proper diagnosis, according to a study in the June issue of the Archives of Neurology. The disease is maternally inherited in about one in four cases, the authors note.
Alexandra Durr, M.D., Ph.D., from Hopital de la Salpetriere in Paris, France, and colleagues examined the delay in diagnosis and the clinical and genetic features of juvenile Huntington disease in 29 patients with a disease onset of 20 years or younger. Patients carried an abnormal CAG repeat expansion in the Huntington disease gene.
The researchers found that the mean delay in diagnosis was nine years. A majority (65.5 percent) of patients had severe cognitive and psychiatric disturbances but no rigidity. Although the disease is usually inherited from the father, transmission was maternal in 25 percent of patients. Nearly half (46 percent) of patients had fewer than 60 CAG repeats. Anticipation and age at onset were similar regardless of whether transmission was maternal or paternal.
The study "makes the salient points that juvenile onset of Huntington disease may not fit the stereotype of motor onset of rigidity and paternal inheritance," Kevin Biglan, M.D., and Ira Shoulson, M.D., from the University of Rochester in Rochester, N.Y., write in an accompanying editorial.
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