Disease relevance of Amyloid Neuropathies, Familial

• Familial amyloidosis, Finnish type (FAF), is an autosomal dominant form of familial amyloid polyneuropathy [1].
• Transthyretin (TTR) amyloid fibril formation is observed systemically in familial amyloid polyneuropathy and senile systemic amyloidosis and appears to be the causative agent in these diseases [2].
• Echocardiographic assessment of the evolution of amyloid heart disease: a study with familial amyloid polyneuropathy [3].
• Thus, abnormal diastolic filling can be seen even in the early stage of familial amyloid polyneuropathy and may be related to myocardial amyloid deposition as well as to fibrosis [4].
• Complex ventricular arrhythmias (multiform, paired or repetitive beats) occurred in 14 patients (47%) with primary amyloid and 3 patients (50%) with familial amyloid polyneuropathy [5].

Psychiatry related information on Amyloid Neuropathies, Familial

• Restless legs syndrome was the first isolated clinical manifestation in four siblings of a family with familial amyloid polyneuropathy [6].
• This group includes pathologies as diverse as Alzheimer's disease, immunoglobulin-light-chain disease, reactive amyloid disease and the familial amyloid polyneuropathies [7].

High impact information on Amyloid Neuropathies, Familial

• BACKGROUND: Liver transplantation holds promise as a treatment for familial amyloid polyneuropathy [8].
• Peripheral nerve fibre changes in asymptomatic children of patients with familial amyloid polyneuropathy [9].
• Iodine-123 metaiodobenzylguanidine scintigraphic assessment of myocardial sympathetic innervation in patients with familial amyloid polyneuropathy [10].
• When compared with amyloid fibril protein from primary amyloidosis and secondary amyloidosis, the protein from familial amyloid polyneuropathy was shown to differ in the molecular weight of the subunit [11].
• We measured plasma norepinephrine levels in patients with familial amyloid polyneuropathy [12].

Chemical compound and disease context of Amyloid Neuropathies, Familial

• Direct sequence analysis of a DNA fragment spanning codon 187 of plasma gelsolin complementary DNA and restriction analysis using a modified polymerase chain reaction demonstrated a single base substitution, guanine to adenine, at nucleotide position 654, which is identical to the mutation in Finnish familial amyloid polyneuropathy type IV [13].
• OBJECTIVES: This study attempted to assess myocardial sympathetic innervation using iodine-123 (I-123) metaidobenzylguanidine (MIBG) imaging in patients with familial amyloid polyneuropathy [10].
• Familial amyloid polyneuropathy (FAP) is a lethal autosomal dominant disorder in which fibrils derived from mutant forms of transthyretin (TTR), the normal plasma carrier of thyroxine (T(4)) and retinol-binding protein, are deposited in tissues [14].
• A rare variant transthyretin that has a leucine-for-valine substitution at position 30 was reported in a sporadic case of type 1 familial amyloid polyneuropathy (FAP) [15].
• A European family with histidine 58 transthyretin mutation in familial amyloid polyneuropathy [16].

Biological context of Amyloid Neuropathies, Familial

• To investigate the role of the autonomic nervous system (ANS) in the generation of the circadian blood pressure (BP) variation, the degree of impairment of the ANS was related to the results of ambulatory BP recordings in 212 patients with progressive autonomic failure due to familial amyloid polyneuropathy [17].
• In order to evaluate the function of the autonomic nervous system, power spectral analysis of heart rate fluctuation and waveform observation of cutaneous vasomotion were conducted in 3 patients with familial amyloid polyneuropathy Type 1 (FAP) (Met30) with autonomic disorders [18].
• One patient had the abnormal serum prealbumin and abnormal DNA sequence found in type I familial amyloid polyneuropathy (FAP)(Japanese type) [19].
• Haplotype analysis of French, British and other European patients with familial amyloid polyneuropathy (met 30 and tyr 77) [20].
• This review will concentrate on the advances in the molecular genetics of the hereditary motor and sensory neuropathies, the hereditary sensory and autonomic neuropathies and the familial amyloid polyneuropathies with particular emphasis on the difficulties in classifying the first group [21].

Anatomical context of Amyloid Neuropathies, Familial

• Peripheral nerves regenerated in familial amyloid polyneuropathy after liver transplantation [8].
• Sural nerve biopsies of 5 children of patients with familial amyloid polyneuropathy were studied by electronmicroscopy [9].
• She had extensive amyloid deposition in the leptomeninges and liver as well as the involvement of the heart and peripheral nervous system which characterizes familial amyloid polyneuropathy caused by variant TTR [22].
• The motility of the esophagus was studied by esophageal manometry in eight patients with familial amyloid polyneuropathy [23].
• We found degeneration of aminergic nerves in nine patients with type I familial amyloid polyneuropathy by histochemical study of rectal mucosa obtained by biopsy [24].

Gene context of Amyloid Neuropathies, Familial

• Fibril formation by WT transthyretin (TTR) or TTR variants has been linked to the etiology of systemic amyloidosis and familial amyloid polyneuropathy, respectively [25].
• Type I familial amyloid polyneuropathy (FAP) is one form of systemic amyloidosis in which ApoE co-localizes with amyloid deposits [26].
• Treatment advances focus on the use of liver transplantation in familial amyloid polyneuropathy to remove the source of mutant protein synthesis [27].
• Clinicopathological and genetic features were assessed on 35 Japanese families affected by late-onset familial amyloid polyneuropathy type I (transthyretin Met30-associated familial amyloid polyneuropathy, FAP TTR Met30) whose siblings were unrelated to endemic Japanese foci [28].
• BACKGROUND: Type I (transthyretin Met30) familial amyloid polyneuropathy (FAP TTR Met30) occurs in 2 endemic foci in Japan. We have also reported late-onset Japanese cases unrelated to an endemic focus and showing distinctive clinicopathologic features [29].

Analytical, diagnostic and therapeutic context of Amyloid Neuropathies, Familial

• Analytical ultracentrifugation methods were utilized to further characterize the acid denaturation pathways of wild-type, V30M, and L55P transthyretin (TTR) that generate intermediates leading to amyloid fibril formation and possibly the diseases senile systemic amyloidosis and familial amyloid polyneuropathy [30].
• Long-term follow-up of survival of liver transplant recipients with familial amyloid polyneuropathy (Portuguese type) [31].
• This surgical form of gene therapy holds much promise for patients with familial amyloid polyneuropathy and has been widely adopted [32].
• The results provide evidence for the relation between the amyloid deposited in the systemic tissues of patients with Finnish familial amyloid polyneuropathy and gelsolin, and demonstrate the utility of these anti-gelsolin antibodies in diagnostic immunohistochemistry [33].
• Usefulness of MALDI/TOF mass spectrometry of immunoprecipitated serum variant transthyretin in the diagnosis of familial amyloid polyneuropathy [34].

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