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.
authors.affiliation: IRCCS Istituto delle Scienze Neurologiche, UOC Neurologia, Centro Il Bene, Bellaria Hospital, Bologna, Italy. fabrizio.salvi@gmail.com
authors.forename: Fabrizio
authors.initials: F
authors.lastname: Salvi
authors.forename: Francesca
authors.initials: F
authors.lastname: Pastorelli
authors.forename: Rosaria
authors.initials: R
authors.lastname: Plasmati
authors.forename: Illaria
authors.initials: I
authors.lastname: Bartolomei
authors.forename: Daniela
authors.initials: D
authors.lastname: Dall'Osso
authors.forename: Claudio
authors.initials: C
authors.lastname: Rapezzi
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D028227:Amyloid Neuropathies, Familial / Q000175:diagnosis / Q000235:genetics; D028226:Amyloidosis, Familial / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D005838:Genotype; D006801:Humans; D007558:Italy; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D055815:Young Adult