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List of references:
Dysphagia in Huntington's disease: a 16-year retrospective.
M C Kagel, N A Leopold,
Degenerative diseases of the basal ganglia are commonly complicated by dysphagia. In 35 patients with Huntington's disease (HD), a hereditary neurodegenerative basal ganglia disease characterized by chorea, dementia, and emotional changes, an extensive battery of clinical and radiologic procedures helped to identify numerous abnormalities of deglutition. The results permitted the classification of our patients with HD into hyperkinetic (HD-h) or rigid-bradykinetic (HD-rb) groups. Although the two groups share multiple abnormalities, statistically significant intergroup differences were observed. Clinical assessment of the HD-h cohort (30 patients) demonstrated rapid lingual chorea, swallow incoordination, repetitive swallows, prolonged laryngeal elevation, inability to stop respiration, and frequent eructations. In the HD-rb group (five patients), frequently observed abnormalities included mandibular rigidity, slow lingual chorea, coughing on foods, and choking on liquids. Videofluoroscopic swallowing studies (VFSS) using a variety of barium-impregnated foods and liquids confirmed the abnormalities noted on the clinical assessment. Respiratory and laryngeal chorea, pharyngeal space retention, and aspiration were also identified. Numerous compensatory techniques introduced during videofluoroscopy benefited all patients.
Dysphagia - 1992
A clinical study of patients with genetically confirmed Huntington's disease from India.
U A Murgod, Q Saleem, A Anand, S K Brahmachari, S Jain, U B Muthane,
Clinical data across the globe especially in genetic diseases like Huntington's disease (HD) is most helpful when collected using standardized formats. This helps in proper comparison of clinical and genetic data.
Journal of the neurological sciences - Sep 2001
Putamen volume reduction on magnetic resonance imaging exceeds caudate changes in mild Huntington's disease.
G J Harris, G D Pearlson, C E Peyser, E H Aylward, J Roberts, P E Barta, G A Chase, S E Folstein,
The characteristic pathological features of Huntington's disease (HD) are neostriatal atrophy and neuronal loss. Although neuroradiological studies often show caudate atrophy in patients with moderate HD, frequently no caudate atrophy is found early in the illness. There have been no quantitative reports to date on in vivo putamen volume measures in mild HD, although the structure is known to be neuropathologically involved in the illness. We measured volumes of caudate nucleus and putamen and bicaudate ratios (BCR) from magnetic resonance images, blind to diagnosis, in 15 patients with mild HD and 19 age- and sex-matched control subjects using a computerized image analysis system. The region showing greatest atrophy was the putamen, which was reduced 50.1% in mean volume in HD patients compared with control subjects (p less than 0.000001). In contrast, caudate volume was reduced 27.7% (p = 0.004). BCR was increased 28.5% in HD patients (p = 0.0002). Discriminant function analysis was 94% effective in identifying the diagnostic group based on putamen volume alone, whereas caudate measures had considerable overlap. Correction of putamen volume for head size led to 100% separation by group. Putamen measures and BCR correlated with neurological examination scores but caudate volume did not. Volumetric measurement of putamen is a more sensitive indicator of brain abnormalities in mild HD than measures of caudate atrophy.
Annals of neurology - Jan 1992
Dysregulated brain creatine kinase is associated with hearing impairment in mouse models of Huntington disease.
Yow-Sien Lin, Chiung-Mei Chen, Bing-wen Soong, Yih-Ru Wu, Hui-Mei Chen, Wen-Ying Yeh, Dai-Rong Wu, Yi-Jun Lin, Paul Wai-Fung Poon, Mei-Ling Cheng, Chih-Hung Wang, Yijuang Chern,
Huntington disease (HD) is a degenerative disorder caused by expanded CAG repeats in exon 1 of the huntingtin gene (HTT). Patients with late-stage HD are known to have abnormal auditory processing, but the peripheral auditory functions of HD patients have yet to be thoroughly assessed. In this study, 19 HD patients (aged 40-59 years) were assessed for hearing impairment using pure-tone audiometry and assessment of auditory brainstem responses (ABRs). PTA thresholds were markedly elevated in HD patients. Consistent with this, elevated ABR thresholds were also detected in two mouse models of HD. Hearing loss thus appears to be an authentic symptom of HD. Immunohistochemical analyses demonstrated the presence of mutant huntingtin that formed intranuclear inclusions in the organ of Corti of HD mice, which might interfere with normal auditory function. Quantitative RT-PCR and Western blot analyses further revealed reduced expression of brain creatine kinase (CKB), a major enzyme responsible for ATP regeneration via the phosphocreatine-creatine kinase (PCr-CK) system, in the cochlea of HD mice. Treatment with creatine supplements ameliorated the hearing impairment of HD mice, suggesting that the impaired PCr-CK system in the cochlea of HD mice may contribute to their hearing impairment. These data also suggest that creatine may be useful for treating the hearing abnormalities of patients with HD.
The Journal of clinical investigation - Apr 2011