Parkinsonism in complex neurogenetic disorders: lessons from hereditary dementias, adult-onset ataxias and spastic paraplegias

Neurol Sci. 2023 Oct;44(10):3379-3388. doi: 10.1007/s10072-023-07044-9. Epub 2023 Aug 30.

Abstract

Parkinsonism is a syndrome characterized by bradykinesia in combination with either rest tremor, rigidity, or both. These features are the cardinal manifestations of Parkinson's disease, the most common cause of parkinsonism, and atypical parkinsonian disorders. However, parkinsonism can be a manifestation of complex neurological and neurodegenerative genetically determined disorders, which have a vast and heterogeneous motor and non-motor phenotypic features. Hereditary dementias, adult-onset ataxias and spastic paraplegias represent only few of this vast group of neurogenetic diseases. This review will provide an overview of parkinsonism's clinical features within adult-onset neurogenetic diseases which a neurologist could face with. Understanding parkinsonism and its characteristics in the context of the aforementioned neurological conditions may provide insights into pathophysiological mechanisms and have important clinical implications, including diagnostic and therapeutic aspects.

Keywords: Familial Alzheimer’s disease; Frontotemporal dementia; Hereditary ataxia; Hereditary spastic paraplegia; Neurogenetics; Parkinsonism.

Publication types

  • Review

MeSH terms

  • Adult
  • Ataxia / diagnosis
  • Ataxia / genetics
  • Dementia*
  • Humans
  • Paraplegia
  • Parkinson Disease*
  • Parkinsonian Disorders* / diagnosis
  • Parkinsonian Disorders* / genetics