Clinical manifestations of intermediate allele carriers in Huntington disease

Cubo, Esther; Ramos-Arroyo, María A; Martinez-Horta, Saul; Martínez-Descalls, Asunción; Calvo, Sara; Gil-Polo, Cecilia; European HD Network,; Vandenberghe, Wim

doi:10.1212/WNL.0000000000002944

Clinical manifestations of intermediate allele carriers in Huntington disease

Author:

Cubo, Esther

Ramos-Arroyo, María A ; Martinez-Horta, Saul ; Martínez-Descalls, Asunción ; Calvo, Sara ; Gil-Polo, Cecilia ; European HD Network, ; Vandenberghe, Wim

Keywords:

Adult, Aging, Alleles, Case-Control Studies, Cognition Disorders, Europe, Female, Heterozygote, Humans, Huntingtin Protein, Huntington Disease, Male, Middle Aged, Motor Disorders, Quality of Life, Registries, Severity of Illness Index, Trinucleotide Repeats, European HD Network, 1103 Clinical Sciences, 1109 Neurosciences, 1702 Cognitive Sciences, Neurology & Neurosurgery, 3202 Clinical sciences, 3209 Neurosciences

Abstract:

There is controversy about the clinical consequences of intermediate alleles (IAs) in Huntington disease (HD). The main objective of this study was to establish the clinical manifestations of IA carriers for a prospective, international, European HD registry.