Chorea‐ballism associated with familial amyotrophic lateral sclerosis. A clinical, genetic, and neuropathological study

@article{Gmez2008ChoreaballismAW,
  title={Chorea‐ballism associated with familial amyotrophic lateral sclerosis. A clinical, genetic, and neuropathological study},
  author={Josep G{\'a}mez and Marc Corbera-Bellalta and Montserrat Mil{\'a} and Rosa L{\'o}pez-Lisbona and Susana Boluda and Isidre Ferrer},
  journal={Movement Disorders},
  year={2008},
  volume={23}
}
Hyperkinetic movements in amyotrophic lateral sclerosis (ALS) are extremely rare. We present clinical, neuropathological, and genetic data for a 53‐year‐old woman with spinal onset ALS presenting chorea affecting the face, mouth, neck, and hands, and ballism in both arms 31 months after leg weakness onset. Her father and older sister had ALS, but had no movement disorders. As well as the typical neuropathological findings of ALS (marked upper and lower motor neuron loss), post‐mortem… 
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References

SHOWING 1-10 OF 23 REFERENCES
Coexistence of Huntington’s disease and familial amyotrophic lateral sclerosis: case presentation
TLDR
The concurrence of HD and FALS in the patient and three previously reported cases did not appear to be associated with cosegregation in other family members, and molecular analysis demonstrated chromosome 4p16.3 expansion of trinucleotide repeats characteristic of HD.
Development of ophthalmoplegia in amyotrophic lateral sclerosis during long-term use of respirators
Luyso-pallido-nigral atrophy and amyotrophic lateral sclerosis
TLDR
Clinical and pathologic findings in a 34-year-old woman with basal ganglia degeneration and amyotrophic lateral sclerosis are reported, indicating that an association with pallido-luyso-nigral atrophy may represent more than a coincidental occurrence.
Problems and pitfalls in the diagnosis of ALS
Cognitive impairment in sporadic ALS: A pathologic continuum underlying a multisystem disorder
TLDR
Although intraneuronal Ub+ inclusions and dystrophic neurites are observed in both ALS subpopulations, the presence of cognitive impairment was associated with a greater distribution and load of both neuropathologic features, suggesting a disease continuum.
El Escorial revisited: Revised criteria for the diagnosis of amyotrophic lateral sclerosis
  • B. Brooks, Robert G. Miller, M. Swash, T. Munsat
  • Medicine, Psychology
    Amyotrophic lateral sclerosis and other motor neuron disorders : official publication of the World Federation of Neurology, Research Group on Motor Neuron Diseases
  • 2000
TLDR
The criteria described below represent the result of a three-day workshop, convened at Airlie Conference Center, Warrenton, Virginia on 2–4 April, 1998 by the World Federation of Neurology Research Committee on Motor Neuron Diseases, and are placed on the WFN ALS website.
Autosomal recessive adult-onset amyotrophic lateral sclerosis associated with homozygosity for Asp90Ala CuZn-superoxide dismutase mutation. A clinical and genealogical study of 36 patients.
TLDR
Electrophysiological studies confirmed the slow progression and spatial distribution of clinical symptoms in the peripheral motor system and marked slowing of transmission in central motor pathways in ALS patients homozygous for an Asp90Ala mutation.
Extrapyramidal system involvement in motor neuron disease
Progress in Clinical Neurosciences: The Evidence for ALS as a Multisystems Disorder of Limited Phenotypic Expression
  • M. Strong
  • Biology, Psychology
    Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques
  • 2001
TLDR
It is shown that at the cellular level, derangements in cytoskeletal protein and glutamate metabolism, mitochondrial function, and in glial interactions are clearly evident and ALS can be justifiably considered a disorder of multiple biological processes sharing in common the degeneration of motor neurons.
...
...