Expert Consensus on Clinical Diagnostic Criteria for Fatal Familial Insomnia
نویسندگان
چکیده
منابع مشابه
A proposal of new diagnostic pathway for fatal familial insomnia
BACKGROUND In absence of a positive family history, the diagnosis of fatal familial insomnia (FFI) might be difficult because of atypical clinical features and low sensitivity of diagnostic tests. FFI patients usually do not fulfil the established classification criteria for Creutzfeldt-Jakob disease (CJD); therefore, a prion disease is not always suspected. OBJECTIVE To propose an update of ...
متن کاملFatal Familial Insomnia: An Overview
Fatal Familial Insomnia (FFI) is an insidious prion disorder that tends to manifest itself as a patient reaches middle age following a pattern consistent with autosomal dominance. A wide range of symptoms are represented, many related to motor function and autonomic regulation, but degeneration of certain areas of the thalamus is present in every case. Genetically, the condition is transmitted ...
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We present clinical, pathological and molecular features of the first Austrian family with fatal familial insomnia. Detailed clinical data are available in five patients and autopsy in four patients. Age at onset of disease ranged between 20 and 60 years, and disease duration between 8 and 20 months. Severe loss of weight was an early symptom in all five patients. Four patients developed insomn...
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We read with interest that Wanschitz and colleagues found a substantial increase in tryptophan hydroxylase-immunoreactive neurons in the pons (superior central nucleus) and medulla (raphe obscurus nucleus) of fatal familial insomnia (FFI) patients, suggesting that a serotoninergic system impairment represents the functional substrate of some typical FFI symptoms. We report the lumbar cerebrospi...
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The clinical presentation and evolution, neuropathological findings, and genotyping of three members of a Spanish family affected with fatal familial insomnia are reported. The mother and two of her offspring developed a rapidly evolving disease with insomnia and behavioural disorders as the initial symptoms and died between 5 and 10 months after the onset of the illness. Frontal brain biopsy i...
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ژورنال
عنوان ژورنال: Chinese Medical Journal
سال: 2018
ISSN: 0366-6999
DOI: 10.4103/0366-6999.235115