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Severity of Cognitive Impairment in Juvenile and Late-Onset Huntington Disease
Estrella Gómez-Tortosa, MD;
Antonio del Barrio, PhD;
Pedro J. García Ruiz, MD;
Rosario Sánchez Pernaute, MD;
Javier Benítez, MD;
Alicia Barroso, PhD;
F. Javier Jiménez, MD;
Justo García Yébenes, MD
Arch Neurol. 1998;55:835-843.
Objectives To compare the severity of cognitive impairment among groups of patients with different age ranges at the onset of Huntington disease (HD) and to evaluate the variable influence of motor and cognitive deficits on functional disability across different ages at the onset of HD.
Design Cross-sectional multidisciplinary evaluation of patients referred to our institution for care related to a possible diagnosis of HD.
Setting The Huntington disease program in the Departments of Neurology and Genetics at the Fundación Jiménez Díaz, Madrid, Spain.
Participants Seventy-one patients with Huntington disease were classified into 3 groups depending on age at onset of motor symptoms: juvenile onset, 25 years of age or younger (group 1, n=15); adult onset, from 26 to 50 years (group 2, n=43); and late onset, 51 years or older (group 3, n=13). Age- and education-matched controls (n=50) were included to compare cognitive performance with patients in groups 1 and 3.
Measures Cognitive evaluation encompassed a wide neuropsychological battery to assess global cognitive functioning and visuospatial, prefrontal, and memory functions. Clinical data included motor and functional variables measured by using the Unified Huntington's Disease Rating Scale. Genetic analysis determined the number of CAG trinucleotide repeats.
Results Patients in group 1 scored 2.9 points and patients in group 3 scored 4.2 points below their respective controls on the Mini-Mental State Examination. Patients in groups 1 and 3 were similarly impaired in verbal memory. Visual function was much more impaired in patients in group 3, and prefrontal functions were slightly worse in patients in group 1. Cognitive scores were correlated only with time of evolution for patients in group 2. Functional scores were not significantly different among the 3 groups, but 11 (85%) of the patients in group 3 were in stage I or II vs 10 (67%) of the patients in group 1. Total functional capacity correlated better with the Mini-Mental State Examination score for patients in group 3 and with motor deficits (akinesia) and prefrontal dysfunction for patients in group 1. The mean±SD CAG repeat length decreased from 59.9±12.6 for patients in group 1 to 46.2±3.5 for patients in group 2 and 41.7±2.6 for patients in group 3. Longer CAG repeats in the HD study population correlated with akinetic features but not with cognitive performance.
Conclusions Despite the much greater genetic defect, cognitive status is slightly better preserved in patients with juvenile-onset HD. Cognitive impairment in patients with juvenile- and late-onset HD differs in the severity of visual and prefrontal deficits. Functional disability in patients with late-onset HD depends more on global cognitive status, while in patients with juvenile-onset HD, it is conditioned more by motor deficits and prefrontal dysfunction.
From the Departments of Neurology (Drs Gómez-Tortosa, del Barrio, García Ruiz, Sánchez Pernaute, and García Yébenes) and Genetics (Drs Benítez and Barroso), and the Research Unit (Dr Jiménez), Fundación Jiménez Díaz, Madrid, Spain. Dr Gómez-Tortosa is now with the Alzheimer's Research Unit, Massachusetts General Hospital, Boston.
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