Article

Parkinsonism and Motor Neuron Diseases: Twenty-Seven Patients with Diverse Overlap Syndromes

Department of Neurology, NYU Langone Medical Center, New York, New York 10016, USA.
Movement Disorders (Impact Factor: 5.63). 09/2010; 25(12):1868-75. DOI: 10.1002/mds.23200
Source: PubMed

ABSTRACT It has long been recognized that signs of motor neuron disease (MND) may accompany clinical evidence of parkinsonism in different neurodegenerative conditions. By using the Columbia University Division of Movement Disorders database, we reviewed data from 5,500 cases of parkinsonism and recorded the presence of upper motor neuron (UMN) dysfunction, lower motor neuron (LMN) dysfunction, or both. Among the 27 patients so identified, we counted those with autonomic dysfunction, cerebellar dysfunction, or dementia. Among the 27 cases, seven had UMN signs and LMN signs as well as parkinsonism and were diagnosed with amyotrophic lateral sclerosis (ALS)-parkinsonism (Brait-Fahn disease). Three of the seven had dementia that was not deemed to be frontotemporal dementia (FTD). Six other patients had no LMN signs but had UMN signs and parkinsonism and were classified as having primary lateral sclerosis (PLS)-parkinsonism. Four patients had both UMN and LMN signs with parkinsonism as well as the characteristic dementia of FTD; they were diagnosed with FTD-parkinsonism-ALS. Seven patients had MND, parkinsonism, and autonomic or cerebellar dysfunction, a combination compatible with multiple system atrophy (MSA). Three patients had syndromes compatible with hereditary spastic paraplegia (HSP). In sum, we found that MND occurs in association with diverse parkinsonian syndromes; some are heritable, others sporadic and causes are uncertain. Having MND may be a risk factor for parkinsonism. A prospective study may elucidate this possibility.

0 Followers
 · 
142 Views
  • [Show abstract] [Hide abstract]
    ABSTRACT: The classification of movement disorders has evolved. Even the terminology has shifted, from an anatomical one of extrapyramidal disorders to a phenomenological one of movement disorders. The history of how this shift came about is described. The history of both the definitions and the classifications of the various neurologic conditions is then reviewed. First is a review of movement disorders as a group; then, the evolving classifications for 3 of them--parkinsonism, dystonia, and tremor--are covered in detail.
    Movement Disorders 05/2011; 26(6):947-57. DOI:10.1002/mds.23759 · 5.63 Impact Factor
  • [Show abstract] [Hide abstract]
    ABSTRACT: Frontotemporal dementia is the second most common dementia among people under the age of 65. Fifty percent of affected patients have an associated family history. Several pathogenic genes have been identified for frontotemporal dementia associated with parkinsonism, including microtubule-associated protein tau, progranulin, and chromatin modifying protein 2B, and fused in sarcoma. It has also been reported that frontotemporal dementia associated with parkinsonism can be linked to chromosome 9p. In addition, there are families with frontotemporal dementia associated with a parkinsonian phenotype but unknown genetic status. Some of these kindreds have been diagnosed clinically as familial progressive supranuclear palsy, hereditary diffuse leukoencephalopathy with axonal spheroids, "overlap" syndrome, and others. Clinical presentation of frontotemporal dementia associated with parkinsonism is variable at age of symptomatic disease onset, disease duration, symptoms, and their occurrence during the disease course. Clinically, it is often difficult to sort out the different genetic forms of frontotemporal dementia associated with parkinsonism. However, with available clinical genetic testing for known genes, the precise diagnosis can be accomplished in some cases.
    Journal of Molecular Neuroscience 06/2011; 45(3):359-65. DOI:10.1007/s12031-011-9568-5 · 2.76 Impact Factor
  • [Show abstract] [Hide abstract]
    ABSTRACT: Neurodegenerative diseases share a number of common features with respect to clinical course, pathology, and molecular mechanisms. This chapter outlines the common themes of neurodegeneration, including the concept of selective neuronal vulnerability, genetic susceptibility, aberrant protein structures, disruption in mitochondrial function, altered axonal transport, oxidative stress, and neuroinflammation. A greater understanding of the shared pathophysiologic processes for neurodegenerative diseases will help to develop therapeutic agents that may be beneficial to a range of different clinical phenotypes. KeywordsSelective vulnerability-Neuropathology-Protein aggregation-Oxidative stress
    06/2011: pages 1-15;