Special Issue: Juvenile Onset Huntington’s Disease

Nopoulos, Peg

doi:10.3390/brainsci10090652

Cited by 1 publication

(1 citation statement)

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“…The clinical features are generally different from adults and much more varied, mostly characterized by parkinsonian signs and dystonia, aside from behavioral/mood and neuropsychiatric disturbances, learning disorders, as well as early and severe cognitive impairment (Westphal variant). In addition, childhood patients may also present cerebellar features, epilepsy, myoclonus, spasticity, developmental delay and autism, constituting a true challenge for an accurate diagnosis [35].…”

Section: Juvenile Hd (Jhd Westphal Variant)mentioning

confidence: 99%

Review of Huntington’s Disease: From Basics to Advances in Diagnosis and Treatment

et al. 2022

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We conducted the present review facing the enormous growth of scientific knowledge in Huntington's disease (HD) and the need for a practical update for general neurologists. HD is a devastating neurodegenerative disease of autosomal dominant inheritance and full penetrance, caused by an expansion of the cytosine-adenine-guanine (CAG) trinucleotide in the huntingtin gene located on chromosome 4. The clinical phenotype varies according to the age of presentation, but it is mainly characterized by cognitive, motor and psychiatric disturbances. Many mechanisms were raised trying to explain the path to neurodegeneration, including disruption of proteostasis, transcription and mitochondrial dysfunction as well as direct toxicity. There has been tremendous progress regarding disease pathogenesis, clinical management and promising new therapeutic avenues including disease-modifying treatments that pose a challenge and a need for a practical approach to be taken by movement disorders specialists and general neurologists.

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Section: Juvenile Hd (Jhd Westphal Variant)mentioning

confidence: 99%