Cerebrotendinous xanthomatosis: Neuropathological findings

@article{Fuente2008CerebrotendinousXN,
  title={Cerebrotendinous xanthomatosis: Neuropathological findings},
  author={B. Pilo de la Fuente and I. Ru{\'i}z and A. L{\'o}pez de Munain and A. Jim{\'e}nez-Escrig},
  journal={Journal of Neurology},
  year={2008},
  volume={255},
  pages={839-842}
}
  • B. Pilo de la Fuente, I. Ruíz, +1 author A. Jiménez-Escrig
  • Published 2008
  • Medicine
  • Journal of Neurology
  • Cerebrotendinous xanthomatosis is an inherited autosomal recessive lipid storage disease caused by a 27-hydroxylase enzyme deficiency, characterised clinically by tendon xanthomas, premature cataracts, chronic diarrhoea and progressive neurologic dysfunction. The disease is very uncommon and there are very few pathological descriptions. We report a 52-year-old male who presented with a neuropsychiatric disorder and cognitive decline. Despite treatment the patient developed optic atrophy… CONTINUE READING
    40 Citations
    Pathophysiology of cerebrotendinous xanthomatosis.
    Cerebrotendinous xanthomatosis: a rare cause of spinocerebellar syndrome.
    • 1
    Psychiatric manifestations in cerebrotendinous xanthomatosis
    • 38
    • PDF
    Myoclonus and dystonia in cerebrotendinous xanthomatosis
    • 22
    Movement disorders in cerebrotendinous xanthomatosis.
    • 10
    Epidemiology, diagnosis, and treatment of cerebrotendinous xanthomatosis (CTX)
    • 42

    References

    SHOWING 1-10 OF 15 REFERENCES
    Cerebrotendinous xanthomatosis: a rare disease with diverse manifestations.
    • 105
    • PDF
    The neuropathology of cerebrotendinous xanthomatosis revisited: a case report and review of the literature
    • 31
    • Highly Influential
    Cerebrotendinous xanthomatosis: clinical course, genotypes and metabolic backgrounds.
    • M. Moghadasian
    • Medicine
    • Clinical and investigative medicine. Medecine clinique et experimentale
    • 2004
    • 103
    Cerebrotendinous xanthomatosis: the spectrum of imaging findings and the correlation with neuropathologic findings.
    • 132
    Sudden death due to cerebrotendinous xanthomatosis confirmed by mutation analysis
    • 12
    • Highly Influential
    Cerebrotendinous xanthomatosis diagnosed after traumatic subdural haematoma.
    • 6
    Magnetic resonance imaging and spectroscopic changes in brains of patients with cerebrotendinous xanthomatosis.
    • 109
    • PDF