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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14 Citations
Background Citations
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14 Citations

Huntington chorea presenting with motor neuron disease.
TLDR
Motor neuron disease can rarely occur in patients with HD and could be one of its presenting features.
The phenotypic variability of amyotrophic lateral sclerosis
TLDR
The phenotypic variability of ALS is reviewed and how it is reflected in familial and sporadic ALS, in the degree of upper and lower motor neuron involvement, in motor and extramotor involvement, and in the spectrum of ALS and frontotemporal dementia.
Deciphering amyotrophic lateral sclerosis: What phenotype, neuropathology and genetics are telling us about pathogenesis
TLDR
If fundamental mechanisms could be identified and understood, ALS therapy could rationally target progression and stop the disease − a goal that seems increasingly achievable.
Clinical Spectrum of Amyotrophic Lateral Sclerosis (ALS).
TLDR
The pathogenic mechanism(s) in ALS remain unknown, but active propagation of the pathology neuroanatomically is likely a primary component.
Chorea as a clinical feature of the basophilic inclusion body disease subtype of fused-in-sarcoma-associated frontotemporal lobar degeneration
TLDR
Three cases of the behavioral variant of frontotemporal dementia (bvFTD) that display chorea with fused in sarcoma (FUS)-positive inclusions (FTLD-FUS) and the basophilic inclusion body disease (BIBD) subtype are identified.
Early onset Parkinsonism associated with an intronic SOD1 mutation
TLDR
A patient belonging to a large family with autosomal-dominant amyotrophic lateral sclerosis, who developed asymmetrical akineto-rigid symptoms at 33 years of age, suggests that SOD1 mutations might be associated with marked phenotypic variability (ALS or early onset Parkinsonism in this family).
Familial ALS with extreme phenotypic variability due to the I113T SOD1 mutation
  • G. Lopate, R. Baloh, P. Allred
  • Psychology, Medicine
    Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases
  • 2010
TLDR
A large family with amyotrophic lateral sclerosis caused by an I113T mutation in superoxide dismuatse type 1 (SOD1) highlights the extreme variability in age of onset, clinical manifestations, disease progression and penetrance due to the I 113T SOD1 mutation.
Diagnosis and Treatment of Chorea Syndromes
TLDR
A pathway for a successful diagnosis of chorea in infancy, childhood, and adulthood for daily practice is suggested and some underlying diseases can be successfully treated and must not be missed.
Hemiballismus: A Rare Manifestation of Stroke. -
TLDR
A case of 48 years old male who presented to the emergency with the history of sudden onset of continuous involuntary flinging movements involving right upper and lower limbs for four hours and on medication there has been significant decrease in the involuntaryflinging movements within forty eight hours and complete resolution of involuntary movements after five days.
Differential Diagnosis of Chorea
  • R. Walker
  • Medicine, Biology
    Current neurology and neuroscience reports
  • 2011
TLDR
Correct diagnosis is essential for appropriate genetic counseling, and ultimately, for future molecular therapies, with many patients remaining undiagnosed.
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