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Abstracts of the 8th Meeting of the Italian Peripheral Nerve Study Group: 14
Author(s) -
Toscano A,
Mazzeo A,
Vita G,
Ferlini A,
Federico A,
Messina C,
De Stefano N
Publication year - 2003
Publication title -
journal of the peripheral nervous system
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1
H-Index - 67
eISSN - 1529-8027
pISSN - 1085-9489
DOI - 10.1046/j.1529-8027.2003.00014.x
Subject(s) - medicine , polyneuropathy , white matter , transthyretin , pathology , magnetic resonance imaging , amyloid (mycology) , amyloidosis , peripheral , central nervous system , peripheral nervous system , hyperintensity , gastroenterology , radiology
Transthyretin‐derived familial amyloid polyneuropathy (TTR‐FAP) is the most common form of hereditary amyloidosis, often associated with multisystemic involvement and a poor prognosis. We studied four patients, aged between 43 and 68 yrs, with TTR‐FAP. A severe somatic and autonomic polyneuropathy was seen in three patients, whereas one was at onset of the disease. In addition 2/4, aged 43 and 63 years old, had a mild central nervous system (CNS) involvement. Neurophysiological studies showed an axonal polyneuropathy and amyloid deposits were found in all sural nerve biopsies. Combined conventional MRI and proton MR spectroscopic imaging (MRSI) were performed in our patients and in 14 age‐matched normal controls. Conventional MRI was normal in two patients and showed minimal white matter and subcortical lesions in the other two, who were 63 and 68 years old. Proton MRSI of the periventricular brain regions showed a large reduction in N‐acetylaspartate/creatine (NAA/Cr) resonance intensity (mean NAA/Cr in patients: 2.45 ± 0.04; mean NAA/Cr in normal controls: 2.9 ± 0.1; p < 0.003). Our findings suggest that, despite minimal or no abnormalities on conventional MRI, evidence of diffuse axonal damage can be demonstrated in brain of patients with TTR‐FAP by proton MRSI examination, even in patients with no or mild CNS involvement.