![]() ![]() In the Wechsler adult intelligence scale she reached a verbal IQ of 84, performance of 63, and a total IQ of 72. She scored 30/30 in the mini mental state examination. General neurological examination was normal except for the absence of light response in the left pupil with normal accommodation. Her main complaints were difficulty in breathing, visual blurring, and intense fear. On admission she was anxious and collaborative but feared that she might have the same disease as her mother. In June 1995, after a short psychiatric evaluation, the patient was again referred to us. One month later she was examined by us after complaining of visual blurring and diplopia without objective findings on examination. In April 1995 she became forgetful and consulted a psychiatrist anxiolytic and antidepressant treatment were started. Soon afterwards social withdrawal and insomnia appeared. This 40 year old woman was seen in December 1994 for amenorrhea. A right frontal cerebral biopsy was reported as non-diagnostic: normal cortical structure was found and sparse spongiosis and astrogliosis appeared in the white matter. An EEG showed at first left temporal slowing and in subsequent studies generalised slowing without specific findings. During her hospital stay four vessel angiography, neumoencephalography, EMG, and CSF analyses were performed, all being normal. The patient was discharged with a diagnosis of CJD and died 5 months after onset. The clinical situation apparently deteriorated and a tracheotomy was performed. ![]() General status deteriorated after admission and the patient was admitted to the intensive care unit requiring mechanical ventilation because of ineffective cough and expectoration although no specific diagnosis was given. Positive neurological findings on examination were small and sluggishly reacting pupils, fine distal tremor, and myoclonus. Unspecified visual complaints, headaches, non-productive cough, and low grade fever were recorded on admission. Two months later her family reported short term memory loss, behavioural disturbances, and hypoacusia and she was admitted to another hospital. ![]() This 47 year old woman's initial complaints were amenorrhea and insomnia, in February 1974. Results CLINICAL DESCRIPTIONS Patient II.4 Some authors have questioned whether fatal familial insomnia, thalamic selective degenerations, and thalamic Creutzfeldt-Jakob disease (CJD) may represent related conditions. 10 11 These share clinical and neuropathological manifestations and similar structural characteristics of PrP with those of fatal familial insomnia. ![]() Recently, six sporadic patients phenotypically similar to fatal familial insomnia but without family history and no mutations in PrP have been described. When described, immunoreactive PrP appears in discrete zones and in small amounts. The affected areas show neuronal loss and astrocytic proliferation but deposits of immunoreactive PrP are not always found as in other prionic diseases. The inferior olive is also affected and isolated foci of spongiosis are found in the cortex. Neuropathology discloses selective atrophy of the thalamus, the mediodorsal and anterior ventral group being especially affected. 4 5Additionally the polymorphic codon 129 in the non-mutated allele conditions the severity type: 129 Met in cases of fatal familial insomnia is associated with short term disease and more thalamic damage with fewer cortical alterations, whereas heterocigosity Met/Val in the codon 129 is associated with a more prolonged disease and widespread neuropathological damage with cortical spongiosis. The disease is associated with a point mutation in the 178 codon of the prion protein (PrP) gene (PRNP) with a substitution of asparagine for aspartic (PrP 178Asn) associated with methionine (Met) in the naturally polymorphic codon 129 of the mutated PRNP. Mean age at onset is 50 years and typical disease duration is between 7 and 36 months, with a mean duration of 18 months. 1 The cognitive disorder, especially in first stages, is an attentional disturbance 2 with short term memory deficits, evolving towards a confusional state leading to dementia and finally death. Fatal familial insomnia is an autosomal dominant disease characterised by severe untreatable insomnia, autonomic disturbances, peculiar cognitive disorder, motor system deficits, and endocrine manifestations. ![]()
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