ArticleJournal of Huntington's disease2017
Neuropathological Comparison of Adult Onset and Juvenile Huntington's Disease with Cerebellar Atrophy: A Report of a Father and Son.
Article in Journal of Huntington's disease, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 1 of them a synthesis that pooled it.
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Who cites it
25 citing papers in PubMed, 1 synthesis or guideline pooled it, 37 citations in OpenAlex.
- The Role of the Cerebellum in Huntington's Disease: a Systematic Review.Cerebellum (London, England) · 2021Pooled it
- Juvenile Huntington Disease With Cerebellar-Predominant Atrophy Identified by Genome Sequencing.Annals of clinical and translational neurology · 2026Article
- Early Manifestations, Diagnostic Pathways, and Epilepsy in Juvenile-Onset Huntington Disease: A Three-Patient Case Series and Systematic Review.Brain sciences · 2026Article
- Efficacy of aripiprazole in pediatric-onset Huntington's disease: a case report and literature review.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025Review
- Challenges in Polyglutamine Diseases: From Dysfunctional Neuronal Circuitries to Neuron-Specific CAG Repeat Instability.International journal of molecular sciences · 2025Review
- Cerebellar and extra-cerebellar symptoms in movement disorders.Arquivos de neuro-psiquiatria · 2025Review
- Asymmetric brain atrophy in Huntington's disease: A postmortem MRI study.Journal of Huntington's disease · 2025Article
- Interventionally targeting somatic CAG expansions can be a rapid disease-modifying therapeutic avenue: Preclinical evidence.bioRxiv : the preprint server for biology · 2025Article
- Ablation of TrkB from Enkephalinergic Precursor-Derived Cerebellar Granule Cells Generates Ataxia.Biology · 2024Article
- Cerebellum in Alzheimer's disease and other neurodegenerative diseases: an emerging research frontier.MedComm · 2024Review
- Clinical Review of Juvenile Huntington's Disease.Journal of Huntington's disease · 2024Review
- Juvenile-Onset Huntington's Disease in Peru: A Case Series of 32 Patients.Movement disorders clinical practice · 2023Article
- The Comprehensive Analysis of Motor and Neuropsychiatric Symptoms in Patients with Huntington's Disease from China: A Cross-Sectional Study.Journal of clinical medicine · 2022Article
- "Spazio Huntington": Tracing the Early Motor, Cognitive and Behavioral Profiles of Kids with Proven Pediatric Huntington Disease and Expanded Mutations > 80 CAG Repeats.Journal of personalized medicine · 2022Article
- Juvenile-Onset Huntington Disease Pathophysiology and Neurodevelopment: A Review.Movement disorders : official journal of the Movement Disorder Society · 2022Review
- Case report: Cerebellar sparing in juvenile Huntington's disease.Frontiers in neurology · 2022Article
- DRPLA: understanding the natural history and developing biomarkers to accelerate therapeutic trials in a globally rare repeat expansion disorder.Journal of neurology · 2021Article
- Juvenile Huntington's Disease and Other PolyQ Diseases, Update on Neurodevelopmental Character and Comparative Bioinformatic Review of Transcriptomic and Proteomic Data.Frontiers in cell and developmental biology · 2021Review
- Chorea in children: etiology, diagnostic approach and management.Journal of neural transmission (Vienna, Austria : 1996) · 2020Review
- Patterns of CAG repeat instability in the central nervous system and periphery in Huntington's disease and in spinocerebellar ataxia type 1.Human molecular genetics · 2020Article
Corrections and comments
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Authors and funding
10 authors at 4 institutions in 1 country.
Funding
Abstract
backgroundHuntington's disease (HD) is an autosomal dominant neurodegenerative disease caused by a trinucleotide (CAG) repeat expansion in huntingtin (HTT) on chromosome 4. Anticipation can cause longer repeat expansions in children of HD patients. Juvenile Huntington's disease (JHD), defined as HD arising before age 20, accounts for 5-10% of HD cases, with cases arising in the first decade accounting for approximately 1%. Clinically, JHD differs from the predominately choreiform adult onset Huntington's disease (AOHD) with variable presentations, including symptoms such as myoclonus, seizures, Parkinsonism, and cognitive decline.
objectiveThe neuropathologic changes of AOHD are well characterized, but there are fewer reports that describe the neuropathology of JHD. Here we report a case of a six-year-old boy with paternally-inherited JHD caused by 169 CAG trinucleotide repeats who presented at age four with developmental delay, dysarthria, and seizures before dying at age 6. The boy's clinical presentation and neuropathological findings are directly compared to those of his father, who presented with AOHD and 54 repeats.
methodsA full autopsy was performed for the JHD case and a brain-only autopsy was performed for the AOHD case. Histochemically- and immunohistochemically-stained slides were prepared from formalin-fixed, paraffin-embedded tissue sections.
resultsBoth cases had neuropathology corresponding to Vonsattel grade 3. The boy also had cerebellar atrophy with huntingtin-positive inclusions in the cerebellum, findings not present in the father.
conclusionsAutopsies of father and son provide a unique opportunity to compare and contrast the neuropathologic findings of juvenile and adult onset HD while also providing the first immunohistochemical evidence of cerebellar involvement in JHD. Additionally this is the first known report to include findings from peripheral tissue in a case of JHD.
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