The European Huntington's Disease Network (EHDN) commissioned an international task force to provide global evidence-based recommendations for everyday clinical practice for treatment of Huntington's disease (HD). The objectives of such guidelines are to standardize pharmacological, surgical and non-pharmacological treatment regimen and improve care and quality of life of patients. A formalized consensus method, adapted from the French Health Authority recommendations was used. First, national committees (French and English Experts) reviewed all studies published between 1965 and 2015 included dealing with HD symptoms classified in motor, cognitive, psychiatric, and somatic categories. Quality grades were attributed to these studies based on levels of scientific evidence. Provisional recommendations were formulated based on the strength and the accumulation of scientific evidence available. When evidence was not available, recommendations were framed based on professional agreement. A European Steering committee supervised the writing of the final recommendations through a consensus process involving two rounds of online questionnaire completion with international multidisciplinary HD health professionals. Patients' associations were invited to review the guidelines including the HD symptoms. Two hundred and nineteen statements were retained in the final guidelines. We suggest to use this adapted method associating evidence base-medicine and expert consensus to other rare diseases.

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International Guidelines for the treatment of Huntington’s Disease

Update on Huntington's disease: Advances in care and emerging therapeutic options

Huntington's disease (HD) is an inherited neurodegenerative disorder characterised by motor impairment, cognitive decline and psychiatric disorders. Dysphagia is a pathologic condition that increases morbidity and mortality of the affected people. Our aim was to evaluate dysphagia in a group of HD patients in view of motor, cognitive and functional decline. Thirty-seven genetically confirmed HD patients were submitted to clinical evaluations of swallowing. Bedside Swallowing Assessment Scale (BSAS) was used. Dysphagia Outcome and Severity Scale (DOSS) was applied for a preliminary classification of swallowing difficulties. All patients were also evaluated by the Unified Huntington's Disease Rating Scale (UHDRS). A group of 39 controls comparable for sex and age were recruited for BSAS scores normalisation. The BSAS scores indicated that in our HD cohort, 32.4% presented relevant or severe dysphagia. The DOSS levels were significantly correlated with main clinical features, such as age, disease duration and motor impairment, with special regard to lingual protrusion ability, dysarthria and bradykinesia. The total functional capacity (TFC) and cognitive scales did not show significant correlation with DOSS levels. The results of clinical examination of swallowing indicated that dysphagia is a prevalent motor symptom of HD.

Dysphagia in Huntington's Disease: Correlation with Clinical Features

Scope Huntington's disease (HD) is a rare progressive neurodegenerative disorder of genetic origin, with no definitive treatment. Unintentional weight loss (UWL) is a clinical feature of symptomatic HD subjects. To prevent UWL, a customized HD diet is designed and its impact on plasma miRNA HD footprint and neurological parameters is examined. Methods and results Eleven participants are included, BMI ≤ 18 kg m-2 or UWL of 5% in 6 months or 10% in a year. Diet design is based on nutritional surveys and interviews of participants and caregivers and on published literature review. Twelve-month dietary intervention, with follow-up every 3 months, induces high diet adherence, which manages to curb UWL in all participants (73% gained weight). Noticeable increases in fat mass and leptin levels are obtained. The results also show significant decrease in the expression of 19 miRNAs, which are previously reported to be upregulated in HD-patients versus healthy controls: revealing hsa-miR-338-3p, hsa-miR-128-3p, hsa-miR-23a-3p, and hsa-miR-24-3p as potential HD-biomarkers. The diminished expression of hsa-miR-100-5p reflects the general maintenance of the functional status. Cognitive status is improved in six of 11 participants, while only three present better motor-score values. Conclusion A customized HD-diet prevents UWL and modified miRNAs HD-footprint. The normalization of miRNA values suggests its potentially use as HD-biomarkers.

Customized Dietary Intervention Avoids Unintentional Weight Loss and Modulates Circulating miRNAs Footprint in Huntington's Disease.

This chapter deals with the clinical features, management, and clinically relevant research findings in premanifest and early Huntington’s disease (HD). A chapter dedicated to these disease stages is included in this volume for the first time because research into the neurobiology of HD in human subjects has improved our understanding to an extent that is clinically useful in defining and managing patients undergoing the transition from symptom-free to manifest HD. Moreover, this group of patients is the main focus for current and future trials of novel therapeutics aimed at slowing the progression of HD.

Premanifest and early Huntington's disease

SUMMARY The delivery of good nutritional care is a fundamental element of the management of individuals with Huntington’s disease and all patients with Huntington’s disease will, at some time, need dietary intervention because of the sequela of the disease; yet there are no European nutritional guidelines. The European Huntington’s Disease Network Standards of Care Dietitians Group has brought together expert dietitians from across Europe to produce nutritional guidelines to improve the nutritional management of individuals with Huntington’s disease. The guidelines were developed to promote optimal nutritional screening, assessment and management of individuals throughout all stages of the disease, with the aim of improving the standard of nutritional care delivered. Literature was systematically searched in an attempt to ensure that the recommendations are based on sound evidence and where evidence is lacking, specific guidance is based on consensus expert dietetic opinion. The provision of nutritional care varies widely between countries. Implementation of these nutritional guidelines across Europe should improve the quality of nutritional care delivered to individuals with Huntington’s disease.

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Lillian Campos

Papers

Nutritional management of individuals with Huntington's disease: nutritional guidelines