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 language | English |
|---|---|
| Pages (from-to) | 58-60 |
| Number of pages | 3 |
| Journal | Amyloid |
| Volume | 19 |
| Issue number | SUPPL. 1 |
| DOIs | |
| Publication status | Published - Jun 2012 |
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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 journal › Article
}
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
C2 - 22620967
AN - SCOPUS:84861431402
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 -