Severity of Cognitive Impairment in Juvenile and Late-Onset Huntington Disease

Gómez‐Tortosa, Estrella; Barrio, A. del; Ruiz, Pedro; Pernaute, Rosario Sánchez; Benı́tez, Javier; Barroso, Alicia; Jiménez, F. Javier; Yébenes, Justo Garcı́a de

doi:10.1001/archneur.55.6.835

Cited by 51 publications

(27 citation statements)

References 46 publications

(25 reference statements)

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“…Thus peg insertion scores are hypothetically also related to the cognitive impairment in HD patients and also reflect visual and prefrontal deficits to a certain extent. This functional disability depends more on the global cognitive status in patients with late-onset HD, while in patients with juvenile-onset HD, it is conditioned more by motor deficits and prefrontal dysfunction [8,31]. Therefore peg insertion scores were significantly associated to the other employed assessment methods for HD severity and to both, the UHDRS and its various subscores [10].…”

Section: Discussionmentioning

confidence: 99%

Assessment of complex movements reflects dysfunction in Huntington?s disease

Saft

Andrich

Meisel

et al. 2003

Journal of Neurology

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Results of various complex instrumental tools, rating scales, caudate atrophy and CAG repeat length may reflect the severity of Huntington's disease (HD). A simple assessment task for dysfunction due to disease is the standardized, computer based performance of peg insertion. The objectives of our study were to compare scored HD symptoms, computed bicaudate diameter ratio (BDR), age related genetic disease load (CAG index = [CAG-35.5 x age]) and peg insertion scores between asymptomatic 34 HD gene carriers, 89 previously untreated HD patients with psychiatric or motor symptoms, or both, and 51 treated HD patients. We measured the period of the total time taken to insert 25 pegs from a rack into a series of appropriate holes, calculated the CAG index, estimated the bicaudate diameter ratio (BDR) of a current brain CT and scored the HD patients under blind conditions. Times for the peg insertion task significantly differed between HD patients and controls, but not between HD gene carriers and controls. BDR and CAG index reflected the increase of symptoms in HD. Peg insertion results and scored severity of HD, BDR and CAG index significantly correlated with each other. Peg insertion scores are not specific diagnostic markers for HD, but they reflect clinical symptoms of neurodegeneration. The performance of peg insertion involves visuospatial cognition, self-elaboration of internal strategies, sorting and planning of movement. Therefore peg insertion particularly reflects executive dysfunction in early HD and additionally motor impairment in advanced HD.

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Section: Discussionmentioning

confidence: 99%

Assessment of complex movements reflects dysfunction in Huntington?s disease

Saft

Andrich

Meisel

et al. 2003

Journal of Neurology

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“…Longer cytosine-adenosine-guanosine repeats in the Huntington's disease population have been correlated with younger age at onset. 5 Brain MRI has shown cortical, caudate nuclei, and putamina atrophy and bilateral hyperintensity of the striatum on T 2 -weighted and proton density-weighted images. 12 Severe caudate nuclei atrophy is helpful for the diagnosis of Huntington's disease in pediatric patients.…”

Section: Discussionmentioning

confidence: 99%

“…1,4 In contrast to patients with adult onset, in which chorea is the major motor abnormality, children often present with spasticity, rigidity, and significant intellectual decline associated with a more rapidly progressive course. 1,[4][5][6] We report a case of unusual early-onset Huntington´s disease presenting with developmental regression, seizures, and parkinsonism.…”

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confidence: 99%

Unusual Early-Onset Huntington's Disease

et al. 2003

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Huntington's disease is an autosomal dominant progressive neurodegenerative disorder characterized by involuntary movements, cognitive decline, and behavioral disorders leading to functional disability. In contrast to patients with adult onset, in which chorea is the major motor abnormality, children often present with spasticity, rigidity, and significant intellectual decline associated with a more rapidly progressive course. An unusual early-onset Huntington's disease case of an 11-year-old boy with severe hypokinetic/rigid syndrome appearing at the age of 2.5 years is presented. Clinical diagnosis was confirmed by polymerase chain reaction study of the expanded IT-15 allele with a compatible size of 102 cytosine-adenosine-guanosine repeats L-Dopa mildly ameliorated rigidity, bradykinesia, and dystonia. We conclude that Huntington's disease should be included in the differential diagnoses of regressive syndromes of early childhood.

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“…13 In addition, patients were evaluated by the Mini-Mental State Examination (MMSE) to estimate cognitive impairment. [14][15][16] The behavioral assessment included in the UHDRS was also applied in all cases. Patients submitted to all these tests every 2 months.…”

Section: Methodsmentioning

confidence: 99%

Efficacy of Levetiracetam in Huntington Disease

Tommaso

fruscolo

Sciruicchio

et al. 2005

Clinical Neuropharmacology

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Generalized edema is the result of increased interstitial fluid volume due to altered Starling forces or capillary endothelial damage. The authors present a patient with severe Parkinson disease who presented with increasing dyspnea, bilateral pleural effusion, and peripheral edema that was refractory to diuretics. Common causes of the severe loss of fluid into the extravascular space were ruled out and pergolide was suspected. Upon discontinuation of pergolide therapy, all signs of fluid retention resolved. This report emphasizes that pergolide should be considered a cause of otherwise unexplained generalized edema in patients with Parkinson disease on this therapy.

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Severity of Cognitive Impairment in Juvenile and Late-Onset Huntington Disease

Cited by 51 publications

References 46 publications

Assessment of complex movements reflects dysfunction in Huntington?s disease

Assessment of complex movements reflects dysfunction in Huntington?s disease

Unusual Early-Onset Huntington's Disease

Efficacy of Levetiracetam in Huntington Disease

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