Substantia Nigra as Brainstem Signature in Pediatric-Onset Huntington's Disease: The RAREST-JHD Study.
Substantia Nigra as Brainstem Signature in Pediatric-Onset Huntington's Disease: The RAREST-JHD Study.
Where did the research take place?
The study site has not been established. Author addresses may differ from where the research occurred.
Catanzaro, IT · Author affiliation
Neuroscience Research Centre, Department of Medical and Surgical Sciences, University Magna Graecia, Catanzaro, Italy.Location evidence
San Giovanni Rotondo, IT · Author affiliation
Unità Huntington e Malattie Rare, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.Location evidence
Barcelona, ES · Author affiliation
Department of Clinical Psychology and Psychobiology, Neurosciences Institute, University of Barcelona, Barcelona, Spain.Location evidence
L'Hospitalet de Llobregat, ES · Author affiliation
Neurology Department, Bellvitge University Hospital, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet DE Llobregat, Spain.Location evidence
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Original abstract
BACKGROUND: Pediatric-onset Huntington's disease (POHD) is usually associated with signs and symptoms of parkinsonism and dystonia predominating on chorea, which is typical of adult-onset HD (AOHD). Brain changes responsible of such an atypical POHD phenotype remain poorly understood. OBJECTIVES: To detect Midbrain and Substantia Nigra (SN) volumetric changes and their potential association with clinical parameters. METHODS: Cross-sectional study by 3 T high-field Magnetic Resonance Imaging and Unified Huntington Disease Rating Scales assays in POHD cohort with ≥60 CAG repeats and AOHD cohort with ≤59CAG repeats in HTT gene. RESULTS: POHD had volumes of SN lower than adult-onset HD (AOHD) (P = 0.003), in addition to lower striatum volume (P < 0.05). The lower SN volume of the whole HD population correlated significantly with clinical measures of UHDRS motor (P = 0.009), functional capacity (P = 0.001) and independence (P = 0.021) scores. CONCLUSIONS: Our findings suggest SN volume decrease as potential POHD brain signature contributing to the atypical HD parkinsonism.