1,721,215 research outputs found
Il priming di ripetizione nel deterioramento cognitivo: ipotesi sull’organizzazione della funzione mnesica
No full textIS DN4 AS A SCREENING TOOL FOR NEUROPATHIC PAIN SUITABLE FOR PAINFUL DIABETIC POLYNEUROPATHY?
No full textBickerstaff encephalitis with anti gm1-antibodies relapsing as guillain-barre syndrome: a case report
No full textAcute demyelinating sensorimotor polyneuropathy in B-cell lymphoma with IGM autoantibodies against glycolipid GD1B
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EPIDEMIOLOGY AND POTENTIAL PROGNOSTIC FACTORS IN GUILLAIN-BARRE SYNDROME: TEN-YEAR EXPERIENCE OF "POLICLINICO TOR VERGATA"
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INSULIN AUTOIMMUNE SYNDROME (HIRATA DISEASE) RELATED TO THE ALPHA-LIPOIC ACID ASSUMPTION: CASE REPORT AND REVIEW OF THE LITERATURE
No full textHeidenhain variant in two patients with inherited V210I Creutzfeldt-Jakob disease
No full textOBJECTIVE:
To report two members of the same family carrying the valine to isoleucine point mutation of the prion protein gene (PRNP) and presenting with visual symptoms as initial manifestation as in the "Heidenhain variant" of sporadic Creutzfeldt-Jakob disease (CJD).
METHODS:
Patients underwent neurological examination, electroencephalogram (EEG), brain magnetic resonance images (MRI) and cerebrospinal fluid (CSF) analysis including the Real Time Quaking Induced Conversion (RT-QuIC) test. Disease-specific mutations and polymorphism at codon 129 of the PRNP gene were also studied.
RESULTS:
Isolated visual symptoms characterized disease onset of both patients followed by progressive neurological signs, dementia and death in 3 (proband) and 9 (his aunt) months. RT-QuIC analysis of CSF samples of both patients revealed the presence of the pathological prion protein and DNA analysis the V210I point mutation of the PRNP and methionine homozygosity at the polymorphic codon 129.
CONCLUSIONS:
This report suggests to consider the diagnosis of V210I genetic CJD in patients presenting with the Heidenhain form of CJD and highlights the importance of genetic testing in all patients with isolated visual manifestations at onset followed by progressive neurological signs and dementia
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