A Val30Met sporadic familial amyloid polyneuropathy case with atypical presentation: upper limb onset of symptoms

Şahin, Erdi; Çakar, Arman; Durmuş-Tekçe, Hacer; Parman, Yeşim

doi:10.1007/s13760-018-0959-z

Cited by 2 publications

(1 citation statement)

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“…At stage 3, patients are wheel-chair bound or bed-ridden (11). Rarely, the disease can start with upper extremity symptoms which can mimic motor neuron disease (8,12). Polyneuropathy disability score (PND) is another scoring system depending on patient's walking capacity.…”

Section: Introductionmentioning

confidence: 99%

Familial Amyloid Polyneuropathy

Çakar

Durmuş-Tekçe

Parman

2019

Archives of Neuropsychiatry

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Transthyretin-related familial amyloid polyneuropathy (TTR-FAP) is a life-threatening disease caused by the accumulation of amyloidogenic transthyretin (TTR) protein in tissues. Mutations in TTR gene destabilize TTR protein to misfold from its native tetramer form to amyloidogenic monomer form. In endemic countries, TTR-FAP presents with lengthdependent small fiber neuropathy, however in non-endemic countries clinical features can be highly variable. Genetic testing for TTR gene is mandatory for the diagnosis. Demonstrating amyloid deposits in tissues may be necessary for distinguishing symptomatic patients from asymptomatic carriers. Routine follow-up should include a wide range of tests to demonstrate systemic involvement. In recent years, treatment of TTR-FAP has significantly improved with new therapeutic approaches. TTR stabilizers and TTR-gene silencing drugs prevent the progression of the disease. Monoclonal antibodies that target amyloid deposits are currently under development. Early initiation of the treatment is important for better functional outcome.

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Section: Introductionmentioning

confidence: 99%