Corticospinal Physiology in Patients With Prader-Willi Syndrome

Abstract

Transcranial magnetic stimulation changes in patients with PWS suggested a hypo-excitability of the motor cortical areas. Defective neurogenesis of the cortical tissue and multiple transmitter alterations are the putative causes. Impaired intracortical inhibition might represent an electrical marker for a deletion defect.

Altered Gesture Imitation and Brain Anatomy in Adult Prader–Willi Syndrome Patients

“…Our structural findings of gray matter differences partially overlap with our results from a previous study in which PWS participants exhibited a relevant increase in functional connectivity between the primary sensorimotor cortices and the putamen that correlated with the presence of self-picking behavior (Pujol et al, 2016). The structural findings are also consistent with reports of motor cortex dysfunction studied using transcranial magnetic stimulation (Civardi, Vicentini, Grugni, & Cantello, 2004).…”

Altered Gesture Imitation and Brain Anatomy in Adult Prader–Willi Syndrome Patients

“…Our structural findings of gray matter differences partially overlap with our results from a previous study in which PWS participants exhibited a relevant increase in functional connectivity between the primary sensorimotor cortices and the putamen that correlated with the presence of self-picking behavior (Pujol et al, 2016). The structural findings are also consistent with reports of motor cortex dysfunction studied using transcranial magnetic stimulation (Civardi, Vicentini, Grugni, & Cantello, 2004).…”

A Daily Comprehensive Muscle Training Programme Increases Lean Mass and Spontaneous Activity in Children with Prader-Willi Syndrome after 6 Months

“…This assumption is further corroborated by examinations with transcranial magnetic stimulation in patients with PWS, showing hypoexcitability of the motor cortex, but normal muscle F waves 21 . This relationship was confirmed by the correlation between lean mass and activity score before the study and of walking distance at the end of the study.…”

Transcranial magnetic stimulation as a tool to understand genetic conditions associated with epilepsy

“…82 SICI was significantly decreased in patients with a deletion compared to those with UDP. 82 The 15q11-q13 region contains 50-100 genes, including genes encoding subunits of the GABA A receptor; reduced expression of GABRA5 and GABRB3 was demonstrated in lymphoblastoid cells from individuals with PWS. 83 On the other hand, increased expression GABRA4 and GABRG2, which encodes the gamma-2 subunit common in postsynaptic GABA A receptors, was also shown.…”

Altered Gesture Imitation and Brain Anatomy in Adult Prader–Willi Syndrome Patients

“…Our structural findings of gray matter differences partially overlap with our results from a previous study in which PWS participants exhibited a relevant increase in functional connectivity between the primary sensorimotor cortices and the putamen that correlated with the presence of self-picking behavior (Pujol et al, 2016). The structural findings are also consistent with reports of motor cortex dysfunction studied using transcranial magnetic stimulation (Civardi, Vicentini, Grugni, & Cantello, 2004).…”

A Daily Comprehensive Muscle Training Programme Increases Lean Mass and Spontaneous Activity in Children with Prader-Willi Syndrome after 6 Months

“…This assumption is further corroborated by examinations with transcranial magnetic stimulation in patients with PWS, showing hypoexcitability of the motor cortex, but normal muscle F waves 21 . This relationship was confirmed by the correlation between lean mass and activity score before the study and of walking distance at the end of the study.…”

Transcranial magnetic stimulation as a tool to understand genetic conditions associated with epilepsy

“…82 SICI was significantly decreased in patients with a deletion compared to those with UDP. 82 The 15q11-q13 region contains 50-100 genes, including genes encoding subunits of the GABA A receptor; reduced expression of GABRA5 and GABRB3 was demonstrated in lymphoblastoid cells from individuals with PWS. 83 On the other hand, increased expression GABRA4 and GABRG2, which encodes the gamma-2 subunit common in postsynaptic GABA A receptors, was also shown.…”

Altered Gesture Imitation and Brain Anatomy in Adult Prader–Willi Syndrome Patients

“…Our structural findings of gray matter differences partially overlap with our results from a previous study in which PWS participants exhibited a relevant increase in functional connectivity between the primary sensorimotor cortices and the putamen that correlated with the presence of self-picking behavior (Pujol et al, 2016). The structural findings are also consistent with reports of motor cortex dysfunction studied using transcranial magnetic stimulation (Civardi, Vicentini, Grugni, & Cantello, 2004).…”

A Daily Comprehensive Muscle Training Programme Increases Lean Mass and Spontaneous Activity in Children with Prader-Willi Syndrome after 6 Months

“…This assumption is further corroborated by examinations with transcranial magnetic stimulation in patients with PWS, showing hypoexcitability of the motor cortex, but normal muscle F waves 21 . This relationship was confirmed by the correlation between lean mass and activity score before the study and of walking distance at the end of the study.…”

Transcranial magnetic stimulation as a tool to understand genetic conditions associated with epilepsy

“…82 SICI was significantly decreased in patients with a deletion compared to those with UDP. 82 The 15q11-q13 region contains 50-100 genes, including genes encoding subunits of the GABA A receptor; reduced expression of GABRA5 and GABRB3 was demonstrated in lymphoblastoid cells from individuals with PWS. 83 On the other hand, increased expression GABRA4 and GABRG2, which encodes the gamma-2 subunit common in postsynaptic GABA A receptors, was also shown.…”