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Natural history, disease progression, and symptom and sign timeline in phenotypes of cerebrotendinous xanthomatosis

Natural history, disease progression, and symptom and sign timeline in each phenotype of cerebrotendinous xanthomatosis (classical, spinal, and “non-neurological” forms), according to age of symptom onset. (Source: Nobrega PR, Bernardes AM, Ribeiro RM, et al. Cerebrotendinous xanthomatosis: a practice review of pathophysiology, diagnosis, and treatment. Front Neurol 2022;13:1049850. Creative Commons Attribution License [CC BY], creativecommons.org/licenses/by/4.0.)

Associated Disorders

  • Ataxia
  • Behavioral problems
  • Bone fractures
  • Bulbar palsy
  • Cerebellar syndrome
  • Chronic diarrhea in children
  • Degenerative CNS disease
  • Dementia
  • Epileptic seizures
  • Gallstones
  • Ischemic heart disease
  • Juvenile cataracts
  • Kidney stones
  • Leukoencephalopathy
  • Marinesco-Sjogren syndrome
  • Mental retardation
  • Mitochondrial myopathy
  • Myelopathy
  • Myopathic-like faces
  • Nephrocalcinosis
  • Nephrolithiasis
  • Neurometabolic disease
  • Osteoporosis
  • Paraparesis
  • Paraplegia
  • Parkinsonism
  • Peripheral polyneuropathy
  • Pes cavus
  • Pontocerebellar degeneration
  • Psychiatric disorders
  • Xanthomata