A case with a 120 base pair insertional mutation in the prion protein gene: the first case in Japan

De novo seven extra repeat expanded mutation in the PRNP gene in an Italian patient with early onset dementia

“…Coherent to neuropsychological tests indicating scarce advancement of dementia in 2 years, [fluorine-18]-fluoro-2-deoxy-D-glucose (FDG) positron emission tomography (PET) scanning performed at ages 27 and 28 years (fig 1C) revealed a non-progressive pattern of cortical brain hypomethabolism, as described previously,3 which in our patient was confined to posterior areas. In agreement with these cases and in addition to the role of the extra repeat number, the polymorphism homozygous for the Met/Met at codon 129 of PRNP possibly contributed to the patient’s relatively anticipated age at onset 3.…”

“…In agreement with these cases and in addition to the role of the extra repeat number, the polymorphism homozygous for the Met/Met at codon 129 of PRNP possibly contributed to the patient’s relatively anticipated age at onset 3. Both parents, whose blood samples were collected for research purposes after informed consent, failed to show neurological or psychiatric symptoms at ages 60 and 55 years, however, and had a wild-type sequence of PRNP (fig 1A).…”

Long-standing Prion Dementia Manifesting as Posterior Cortical Atrophy

“…Familial history of neurological disease is common but not constant. 5 Paraclinical investigations are not specific and do not suggest prion disease: EEG shows generalized slowing of brain activity and brain MRI shows mild to moderate diffuse or focal cerebral and cerebellar atrophy without signal abnormalities of the white matter and basal ganglia. Cerebrospinal fluid examination is normal.…”

De novo seven extra repeat expanded mutation in the PRNP gene in an Italian patient with early onset dementia

“…The level of tacrolimus had been therapeutic 2 days before (5.4 ng/ml), and it was deemed possible that administration of metoclopramide for nausea might have been responsible for the sudden raise by improving gastric motility and intestinal absorption of the medication. 3 The patient did not have hypomagnesaemia at the time of acute symptom onset.…”

“…2 Thorner pointed to an attenuation of meningeal signs on the paretic side as a very quick and easy method of diagnosing unilateral motor deficits. 3 Diminution of Kernig's sign on the paretic side was explained by Thorner through disturbed transmission of a reflexive response to crural flexor muscles via the affected pyramidal tract. 2 Both Kernig's hint in his historical publication and Thorner's subsequent study remained unknown and nowadays seem to be completely forgotten.…”