Open AccessQuantitative, functional MRI and neurophysiological markers in a case of Gerstmann-Str�ussler-Scheinker syndrome
Author(s) -
Silvia Marıno,
Rosa Morabito,
Simona De Salvo,
Lilla Bonanno,
Alessia Bramanti,
Patrizia Pollicino,
Roberto Giorgianni,
Placido Bramantı
Publication year - 2017
Publication title -
functional neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.505
H-Index - 42
eISSN - 1971-3274
pISSN - 0393-5264
DOI - 10.11138/fneur/2017.32.3.153
Subject(s) - neuroscience , atrophy , precentral gyrus , brainstem , supramarginal gyrus , magnetic resonance imaging , psychology , anatomy , medicine , functional magnetic resonance imaging , pathology , radiology
Gerstmann-Sträussler-Scheinker syndrome (GSS) is an inherited autosomal dominant prion disease, caused by a codon 102 proline to leucine substitution (P102L) in the prion protein gene (PRNP). We describe the case of a 40-year-old male, affected by a slowly progressive gait disturbance, leg weakness and cognitive impairment. Genomic DNA revealed a point mutation of PRNP at codon 102, resulting in P102L, and the diagnosis of GSS was confirmed. Somatosensory evoked potentials showed alterations of principal parameters, particularly in the right upper and lower limbs. Laser-evoked potentials were indicative of nociceptive system impairment, especially in the right upper and lower limbs. Conventional magnetic resonance imaging (MRI) revealed marked atrophy of the vermis and cerebellar hemispheres and mild atrophy of the middle cerebellar peduncles and brainstem, as confirmed by a brain volume automatic analysis. Resting-state functional MRI showed increased functional connectivity in the bilateral visual cortex, and decreased functional connectivity in the bilateral frontal pole and supramarginal and precentral gyrus. Albeit limited to a single case, this is the first study to assess structural and functional connectivity in GSS using a multimodal approach.