Neurological involvement in Ile68Leu (p.Ile88Leu) ATTR amyloidosis: not only a cardiogenic mutation
نویسندگان
چکیده
منابع مشابه
Heart transplantation in hereditary ATTR amyloidosis
Systemic amyloidosis related to mutation of TTR gene can be complicated with Familial Amyloid Cardiomyopathy (TTR-FAC), a severe and life threatening form of heart failure with preserved ejection fraction, with a poor prognosis. To date there is no proven effective specific treatment against TTR-FAC, and the usual treatments of chronic heart failure are either ineffective or contra indicated, e...
متن کاملGuidelines for genetic counselling in ATTR amyloidosis
Definition Genetic counselling is “a process of communication that deals with the occurrence, or risk of occurrence, of a (possibly) genetic disorder in the family” (ASHG, 1975; EuroGentest guidelines). It involves an attempt, by appropriately trained persons, to help patients and their families to (1) understand the medical facts of the disease; (2) appreciate the contribution of heredity and ...
متن کاملQuality of life in ATTR amyloidosis
Methods As part of a protocolised model of care involving comprehensive annual clinical evaluation (including DPD scintigraphy, echocardiography, ECG, neurological testing, cardiac magnetic resonance imaging (CMR), 6-minute walk test and blood tests), patients completed the KCCQ and SF-36 questionnaires. The KCCQ quantifies physical function (PF), symptoms, social function (SF), and QoL in card...
متن کاملFirst European Congress on Hereditary ATTR amyloidosis.
Familial amyloidosis typically causes a nerve length-dependent small fiber polyneuropathy that starts in the feet with loss of temperature and pain sensations, associated with autonomic dysfunction, which can be extremely severe and life threatening. Neuropathic pain is commonly associated with amyloid neuropathy. There are no randomized controlled trials in peripheral neuropathies specifically...
متن کاملNative T1 mapping in ATTR cardiac amyloidosis - comparison with AL cardiac amyloidosis - a 200 patient study
Background Transthyretin amyloidosis (ATTR amyloidosis) is an under diagnosed cause of heart failure with no truly quantitative test. Cardiac involvement is the leading cause of death and influences therapeutic choices. Since new therapies are imminent which aim to treat ATTR amyloidosis the lack of a quantitative test represents a critical step for drug development. In cardiac AL amyloidosis, ...
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ژورنال
عنوان ژورنال: Amyloid
سال: 2021
ISSN: 1350-6129,1744-2818
DOI: 10.1080/13506129.2021.1917357