Early clinical heterogeneity in choreoacanthocytosis.

@article{Lossos2005EarlyCH,
  title={Early clinical heterogeneity in choreoacanthocytosis.},
  author={Alexander Lossos and Carol Dobson-Stone and Anthony P Monaco and Dov Soffer and Ezra Rahamim and James Preston Newman and S Babar Ali Mohiddin and Lameh Fananapazir and Israela Lerer and Eduard Linetsky and Avinoam Reches and Zohar Argov and Oded Abramsky and Natan Gadoth and M Sharifi Sadeh and John Moshe Gomori and Moshe Boher and Vardiella Meiner},
  journal={Archives of neurology},
  year={2005},
  volume={62 4},
  pages={
          611-4
        }
}
BACKGROUND Choreoacanthocytosis (CHAC) is a slowly progressive multisystem disorder with involuntary movements, cognitive decline, behavioral changes, seizures, and polyneuropathy caused by mutations in the VPS13A gene. OBJECTIVE To describe the early clinical features and possible genotype-phenotype correlation in CHAC. DESIGN AND SETTING Case series in a tertiary care center. PATIENTS AND MAIN OUTCOME METHODS: Choreoacanthocytosis was diagnosed in 3 patients of Jewish origin from 3… CONTINUE READING
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Citations

Publications citing this paper.
SHOWING 1-10 OF 22 CITATIONS

Choreoacanthocytosis in a Mexican family.

VIEW 9 EXCERPTS
CITES BACKGROUND
HIGHLY INFLUENCED

Management of Neuroacanthocytosis Syndromes

  • Tremor and other hyperkinetic movements
  • 2015
VIEW 1 EXCERPT
CITES BACKGROUND

References

Publications referenced by this paper.
SHOWING 1-10 OF 19 REFERENCES

Clinical features and molecular bases of neuroacanthocytosis

  • Journal of Molecular Medicine
  • 2002
VIEW 9 EXCERPTS
HIGHLY INFLUENTIAL

Chorea-acanthocytosis: clinical and genetic findings in three families from the Arabian peninsula.

  • Movement disorders : official journal of the Movement Disorder Society
  • 2003
VIEW 6 EXCERPTS
HIGHLY INFLUENTIAL

Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis

  • European Journal of Human Genetics
  • 2002
VIEW 7 EXCERPTS
HIGHLY INFLUENTIAL

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