Rare Diseases Symptoms Automatic Extraction

Advances and pitfalls of cell therapy in metabolic leukodystrophies.

[x-linked adrenoleukodystrophy]

Leukodystrophies are a group of disorders characterized by myelin dysfunction, either at the level of myelin formation or maintenance, that affect the central nervous system (CNS) and also in some cases, to a lesser extent, the peripheral nervous system (PNS). Although these genetic-based disorders are generally rare, all together they have a significant impact in the society, with an estimated overall incidence of 1 in 7,663 live births. Currently, there is no cure for leukodystrophies, and the development of effective treatments remains challenging. Not only leukodystrophies generally progress very fast, but also most are multifocal needing the simultaneous targeting at multiple sites. Moreover, as the CNS is affected, the blood-brain barrier (BBB) limits the efficacy of treatment. Recently, interest on cell therapy has increased, and the leukodystrophies for which metabolic correction is needed have become first-choice candidates for cell-based clinical trials. In this review, we present and discuss the available cell transplantation therapies in metabolic leukodystrophies including fucosidosis, X-linked adrenoleukodystrophy, metachromatic leukodystrophy, Canavan disease, and Krabbe's disease. We will discuss the latest advances of cell therapy and its pitfalls in this group of disorders, taking into account, among others, the limitations imposed by reduced cell migration in multifocal conditions, the need to achieve corrective enzyme threshold levels, and the growing awareness that not only myelin but also the associated axonopathy needs to be targeted in some leukodystrophies.

Diseases presenting "central nervous system" symptom

  • 22q11.2 deletion syndrome
  • adrenomyeloneuropathy
  • alexander disease
  • aniridia
  • aromatase deficiency
  • canavan disease
  • child syndrome
  • classical phenylketonuria
  • congenital toxoplasmosis
  • cowden syndrome
  • cushing syndrome
  • cystinuria
  • dracunculiasis
  • erdheim-chester disease
  • fabry disease
  • gm1 gangliosidosis
  • hereditary cerebral hemorrhage with amyloidosis
  • hirschsprung disease
  • hodgkin lymphoma, classical
  • kabuki syndrome
  • kallmann syndrome
  • kindler syndrome
  • krabbe disease
  • lamellar ichthyosis
  • legionellosis
  • liposarcoma
  • malignant atrophic papulosis
  • monosomy 21
  • neonatal adrenoleukodystrophy
  • phenylketonuria
  • proteus syndrome
  • scrub typhus
  • severe combined immunodeficiency
  • sneddon syndrome
  • triple a syndrome
  • von hippel-lindau disease
  • waldenström macroglobulinemia
  • well-differentiated liposarcoma
  • wiskott-aldrich syndrome
  • wolf-hirschhorn syndrome
  • x-linked adrenoleukodystrophy
  • zellweger syndrome

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