Table 2.

Phenotypes Associated with Hereditary Transthyretin (ATTR) Amyloidosis

PhenotypeRepresentative Genotype
TypeFeatures
ATTR amyloid
neuropathy
(familial amyloid
polyneuropathy)
Early:
  • Sensorimotor polyneuropathy of the legs
  • Carpal tunnel syndrome
  • Autonomic dysfunction
  • Constipation &/or diarrhea
  • Impotence
Late:
  • Cardiomyopathy
  • Vitreous opacities
  • Glaucoma
  • Nephropathy
  • CNS symptoms
p.Val50Met 1
ATTR cardiac
amyloidosis
(familial amyloid
cardiomyopathy)
  • Cardiomegaly
  • Conduction block
  • Arrhythmia
  • Anginal pain
  • Congestive heart failure
  • Sudden death
p.Val142Ile
ATTR
leptomeningeal
amyloidosis /
cerebral amyloid
angiopathy
  • Transient focal neurologic episodes
  • Hemorrhage (intracerebral &/or subarachnoid)
  • Dementia
  • Ataxia
  • Spasticity
  • Seizures
  • Psychosis
  • Hydrocephalus
p.Asp38Gly
1.

Historical protein numbering was based on the mature protein after cleavage of a 20-amino-acid signal sequence (i.e., p.Val50Met would be referred to as Val30Met). Standard nomenclature uses numbering beginning at the Met initiation codon. Variants reported in older literature may use historical nomenclature.

From: Hereditary Transthyretin Amyloidosis

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