title: Familial amyloidotic polyneuropathy with muscle, vitreous, leptomeningeal, and cardiac involvement: phenotypic, pathological, and MRI description.
abstract: Familial amyloidotic polyneuropathy (FAN type 1) is a rare systemic disease that causes severe and disabling peripheral neuropathy. We describe the phenotypic, radiological, and pathological characteristics of a patient with familial amyloid polyneuropathy type 1 who had evidence of motor-sensory-autonomic neuropathy, ocular vitreous deposits, diffuse leptomeningeal involvement, and hypertrophic cardiomyopathy. Muscle involvement, an infrequently reported feature, was also observed. Early recognition of the disease has significant therapeutic implications.
authors.affiliation: Departments of Neurology, Neuroimaging and Interventional Radiology, Bangalore, India.
authors.forename: D K
authors.initials: DK
authors.lastname: Prashantha
authors.forename: Arun B
authors.initials: AB
authors.lastname: Taly
authors.forename: Sanjib
authors.initials: S
authors.lastname: Sinha
authors.forename: T Chikkabasavaiah
authors.initials: TC
authors.lastname: Yasha
authors.forename: Narayanappa
authors.initials: N
authors.lastname: Gayathri
authors.forename: J M E
authors.initials: JM
authors.lastname: Kovur
authors.forename: Joy
authors.initials: J
authors.lastname: Vijayan
references.citation: Muscle Nerve. 2005 Feb;31(2):266-72
references.pmid: 15478123
references.citation: Arch Neurol. 2005 Jul;62(7):1057-62
references.pmid: 16009758
references.citation: Neurology. 2005 Oct 11;65(7):1051-6
references.pmid: 16217058
references.citation: AJNR Am J Neuroradiol. 2005 Sep;26(8):2043-8
references.pmid: 16155157
references.citation: Brain. 1999 Feb;122 ( Pt 2):183-90
references.pmid: 10071047
references.citation: Ann Neurol. 1998 Jun;43(6):719-28
references.pmid: 9629841
references.citation: J Assoc Physicians India. 1991 Aug;39(8):646-8
references.pmid: 1667656
references.citation: J Peripher Nerv Syst. 2004 Dec;9(4):232-41
references.pmid: 15574136
references.citation: Clin Neuropathol. 2005 May-Jun;24(3):118-25
references.pmid: 15943163