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Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
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[Familial amyloidotic polyneuropathies].

Jean-Michel Vallat1, Benoît Funalot, Frédéric Faugeras

  • 1Centre de Référence Neuropathies Périphériques Rares, Service de neurologie, CHU Dupuytren, 2 av. Martin Luther King, 87043 Limoges Cedex. jean-michel.vallat@unilim.fr

Bulletin De L'Academie Nationale De Medecine
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Transthyretin familial amyloid polyneuropathy (TTRFAP) is a progressive, fatal neuropathy. Early consideration in unknown polyneuropathy and genetic testing for TTR mutations are crucial for diagnosis.

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Area of Science:

  • Neurology
  • Genetics
  • Pathology

Context:

  • Transthyretin familial amyloid polyneuropathy (TTRFAP) is a rare, autosomal dominant inherited disorder.
  • It presents as a progressive, fatal neuropathy with a typical 10-year survival post-symptom onset.
  • The Val30Met variant is prevalent in specific populations like Portugal, Sweden, and Japan.

Purpose:

  • To highlight the diagnostic considerations for TTRFAP.
  • To emphasize the importance of recognizing TTRFAP in patients with unexplained progressive axonal polyneuropathy, particularly with autonomic dysfunction.
  • To guide clinicians on diagnostic approaches, including biopsy and genetic testing.

Summary:

  • TTRFAP is characterized by progressive axonal polyneuropathy, often with autonomic dysfunction, and a positive family history.
  • Diagnostic tools include nerve biopsy to detect amyloid deposits, though negative results do not exclude the condition.
  • Genetic testing for TTR gene mutations is recommended for suspected cases, especially those with small nerve fiber involvement.

Impact:

  • Improved diagnostic rates for TTRFAP.
  • Earlier intervention and management strategies for affected individuals.
  • Enhanced understanding of TTRFAP's clinical presentation and genetic basis.