Document Detail

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.
MedLine Citation:
PMID:  22620967     Owner:  NLM     Status:  In-Data-Review    
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.
Fabrizio Salvi; Francesca Pastorelli; Rosaria Plasmati; Illaria Bartolomei; Daniela Dall'osso; Claudio Rapezzi
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis     Volume:  19 Suppl 1     ISSN:  1744-2818     ISO Abbreviation:  Amyloid     Publication Date:  2012 Jun 
Date Detail:
Created Date:  2012-05-24     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9433802     Medline TA:  Amyloid     Country:  England    
Other Details:
Languages:  eng     Pagination:  58-60     Citation Subset:  IM    
IRCCS Istituto delle Scienze Neurologiche, UOC Neurologia, Centro Il Bene, Bellaria Hospital , Bologna , Italy.
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