Genotypic and phenotypic correlation in an Italian population of hereditary amyloidosis TTR-related (HA-TTR)

Clinical and neurophysiological aids to diagnosis and some reflections on misdiagnosis

Fabrizio Salvi, Francesca Pastorelli, Rosaria Plasmati, Illaria Bartolomei, Daniela Dall'Osso, Claudio Rapezzi

Research output: Contribution to journalArticle

13 Citations (Scopus)

Abstract

131 HA-TTR patients from a single referral centre presented at onset five major clinical syndromes: (1) the typical "Portuguese variant" axonal polyneuropathy with dissociated (syringomyelic like) sensory loss and autonomic dysfunction; (2) bilateral carpal tunnel syndrome; (3) restless leg syndrome with impotence and unexplained loss of weight; (4) pure motor neuropathy without autonomic abnormalities; (5) recurrent small brain or spinal cord ischemia or haemorrhages with leptomeningeal amyloid deposition (and late superficial siderosis of the central nervous system) and vitreous deposits. Some patients in our population presented a "pseudodemyelinating" onset of the somatic neuropathy, as well as atypical motor neuropathy simulating lower motor neuron disease. The five syndromes can overlap in advanced stages of the disease. Genetic screening of HA-TTR could be worthwhile in any idiopathic progressive axonal peripheral neuropathy, as well as in drug resistant demyelinating sensory-motor neuropathy or in pure motor neuropathy, when multi-organ involvement is present.

Original languageEnglish
Pages (from-to)58-60
Number of pages3
JournalAmyloid
Volume19
Issue numberSUPPL. 1
DOIs
Publication statusPublished - Jun 2012

Fingerprint

Familial Amyloidosis
Diagnostic Errors
Siderosis
Spinal Cord Ischemia
Restless Legs Syndrome
Motor Neuron Disease
Carpal Tunnel Syndrome
Polyneuropathies
Genetic Testing
Peripheral Nervous System Diseases
Erectile Dysfunction
Amyloid
Population
Weight Loss
Referral and Consultation
Central Nervous System
Hemorrhage
Brain
Pharmaceutical Preparations

Keywords

  • Amyloid
  • Familial
  • Neuropathy
  • Transthyretin mutation

ASJC Scopus subject areas

  • Internal Medicine

Cite this

Genotypic and phenotypic correlation in an Italian population of hereditary amyloidosis TTR-related (HA-TTR) : Clinical and neurophysiological aids to diagnosis and some reflections on misdiagnosis. / Salvi, Fabrizio; Pastorelli, Francesca; Plasmati, Rosaria; Bartolomei, Illaria; Dall'Osso, Daniela; Rapezzi, Claudio.

In: Amyloid, Vol. 19, No. SUPPL. 1, 06.2012, p. 58-60.

Research output: Contribution to journalArticle

@article{8c79132836ee4e74ae6e1492a6fbec6b,
title = "Genotypic and phenotypic correlation in an Italian population of hereditary amyloidosis TTR-related (HA-TTR): Clinical and neurophysiological aids to diagnosis and some reflections on misdiagnosis",
abstract = "131 HA-TTR patients from a single referral centre presented at onset five major clinical syndromes: (1) the typical {"}Portuguese variant{"} axonal polyneuropathy with dissociated (syringomyelic like) sensory loss and autonomic dysfunction; (2) bilateral carpal tunnel syndrome; (3) restless leg syndrome with impotence and unexplained loss of weight; (4) pure motor neuropathy without autonomic abnormalities; (5) recurrent small brain or spinal cord ischemia or haemorrhages with leptomeningeal amyloid deposition (and late superficial siderosis of the central nervous system) and vitreous deposits. Some patients in our population presented a {"}pseudodemyelinating{"} onset of the somatic neuropathy, as well as atypical motor neuropathy simulating lower motor neuron disease. The five syndromes can overlap in advanced stages of the disease. Genetic screening of HA-TTR could be worthwhile in any idiopathic progressive axonal peripheral neuropathy, as well as in drug resistant demyelinating sensory-motor neuropathy or in pure motor neuropathy, when multi-organ involvement is present.",
keywords = "Amyloid, Familial, Neuropathy, Transthyretin mutation",
author = "Fabrizio Salvi and Francesca Pastorelli and Rosaria Plasmati and Illaria Bartolomei and Daniela Dall'Osso and Claudio Rapezzi",
year = "2012",
month = "6",
doi = "10.3109/13506129.2012.682187",
language = "English",
volume = "19",
pages = "58--60",
journal = "Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis",
issn = "1350-6129",
publisher = "Taylor and Francis Ltd.",
number = "SUPPL. 1",

}

TY - JOUR

T1 - Genotypic and phenotypic correlation in an Italian population of hereditary amyloidosis TTR-related (HA-TTR)

T2 - Clinical and neurophysiological aids to diagnosis and some reflections on misdiagnosis

AU - Salvi, Fabrizio

AU - Pastorelli, Francesca

AU - Plasmati, Rosaria

AU - Bartolomei, Illaria

AU - Dall'Osso, Daniela

AU - Rapezzi, Claudio

PY - 2012/6

Y1 - 2012/6

N2 - 131 HA-TTR patients from a single referral centre presented at onset five major clinical syndromes: (1) the typical "Portuguese variant" axonal polyneuropathy with dissociated (syringomyelic like) sensory loss and autonomic dysfunction; (2) bilateral carpal tunnel syndrome; (3) restless leg syndrome with impotence and unexplained loss of weight; (4) pure motor neuropathy without autonomic abnormalities; (5) recurrent small brain or spinal cord ischemia or haemorrhages with leptomeningeal amyloid deposition (and late superficial siderosis of the central nervous system) and vitreous deposits. Some patients in our population presented a "pseudodemyelinating" onset of the somatic neuropathy, as well as atypical motor neuropathy simulating lower motor neuron disease. The five syndromes can overlap in advanced stages of the disease. Genetic screening of HA-TTR could be worthwhile in any idiopathic progressive axonal peripheral neuropathy, as well as in drug resistant demyelinating sensory-motor neuropathy or in pure motor neuropathy, when multi-organ involvement is present.

AB - 131 HA-TTR patients from a single referral centre presented at onset five major clinical syndromes: (1) the typical "Portuguese variant" axonal polyneuropathy with dissociated (syringomyelic like) sensory loss and autonomic dysfunction; (2) bilateral carpal tunnel syndrome; (3) restless leg syndrome with impotence and unexplained loss of weight; (4) pure motor neuropathy without autonomic abnormalities; (5) recurrent small brain or spinal cord ischemia or haemorrhages with leptomeningeal amyloid deposition (and late superficial siderosis of the central nervous system) and vitreous deposits. Some patients in our population presented a "pseudodemyelinating" onset of the somatic neuropathy, as well as atypical motor neuropathy simulating lower motor neuron disease. The five syndromes can overlap in advanced stages of the disease. Genetic screening of HA-TTR could be worthwhile in any idiopathic progressive axonal peripheral neuropathy, as well as in drug resistant demyelinating sensory-motor neuropathy or in pure motor neuropathy, when multi-organ involvement is present.

KW - Amyloid

KW - Familial

KW - Neuropathy

KW - Transthyretin mutation

UR - http://www.scopus.com/inward/record.url?scp=84861431402&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84861431402&partnerID=8YFLogxK

U2 - 10.3109/13506129.2012.682187

DO - 10.3109/13506129.2012.682187

M3 - Article

VL - 19

SP - 58

EP - 60

JO - Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis

JF - Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis

SN - 1350-6129

IS - SUPPL. 1

ER -