Autosomal Recessive Spastic Ataxia of Charlevoix‐Saguenay in Two Half‐Siblings
ABSTRACT Autosomal recessive spastic ataxia of Charlevoix‐Saguenay (ARSACS) is caused by biallelic pathogenic variants in the SACS gene. We report the clinical, radiologic and neurophysiologic features of a pair of half‐siblings who presented with progressive cerebellar ataxia, peripheral neuropathy and upper motor neuron signs.
Dennis Yeow +6 more
wiley +1 more source
Usefulness of milnacipran in treating phantom limb pain
Yasuhide Nagoshi,1 Akira Watanabe,1 Saiko Inoue,1 Tomoki Kuroda,2 Mitsuo Nakamura,3 Yoshitake Matsumoto,4 Kenji Fukui31Department of Psychiatry (Psychosomatic Medicine), Kyoto First Red Cross Hospital, Kyoto, Japan; 2Gojouyama Hospital, Nara, Japan ...
Matsumoto Y +6 more
doaj
The Case of a 28‐Year‐Old Woman With Medically Refractory Focal Epilepsy
ABSTRACT We present the case of a 28‐year‐old right‐handed woman with medically refractory focal epilepsy. Her seizure semiology and electroencephalography (EEG) indicated a seizure onset zone in the right central‐parietal area. However, both MRI and PET scans were unremarkable, showing no focal lesions or areas of altered metabolism.
Rishi Sharma +5 more
wiley +1 more source
Towards multiple interactions of inner and outer sensations in corporeal awareness [PDF]
Under normal circumstances, different inner- and outer-body sources are integrated to form coherent and accurate mental experiences of the state of the body, leading to the phenomenon of corporeal awareness. How these processes are affected by changes in
LUCCI, Giuliana, PAZZAGLIA, Mariella
core +1 more source
Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia
ABSTRACT Background Familial dysautonomia (FD) is a hereditary neurodevelopmental disorder caused by aberrant splicing of the ELP1 gene, leading to a tissue‐specific reduction in ELP1 protein expression. Preclinical models indicate that increasing ELP1 levels can mitigate disease manifestations.
Alejandra González‐Duarte +13 more
wiley +1 more source
Botulinum toxin type A in the treatment of phantom pain: a successful case study
Due to active hostilities, the number of patients experiencing phantom pain has sharply increased nowadays. In case of limb amputation, 50 % of patients experience phantom pain, and about 70 % report phantom sensations.
D.V. Dmytriiev +3 more
doaj +1 more source
One Year Follow-up of a Randomized, Double-Blind, Placebo-Controlled Trial of Percutaneous Peripheral Nerve Stimulation for Chronic Neuropathic Pain Following Amputation [PDF]
INTRODUCTION Over 85% of patients experience residual limb (RLP) and/or phantom limb (PLP) pain following amputation. Peripheral nerve stimulation (PNS) is a non-opioid approach to relieve postamputation neuropathic pain.
Boggs, Josh W +12 more
core
Subtyping somatic tinnitus: a cross-sectional UK cohort study of demographic, clinical and audiological characteristics [PDF]
Somatic tinnitus is the ability to modulate the psychoacoustic features of tinnitus by somatic manoeuvres. The condition is still not fully understood and further identification of this subtype is essential, particularly for the purpose of establishing ...
Hall, Deborah A +4 more
core +3 more sources
ABSTRACT Objective Peripheral neuropathies contribute to patient disability but may be diagnosed late or missed altogether due to late referral, limitation of current diagnostic methods and lack of specialized testing facilities. To address this clinical gap, we developed NeuropathAI, an interpretable deep learning–based multiclass classification ...
Chaima Ben Rabah +7 more
wiley +1 more source
Mental Ownership and Higher Order Thought [PDF]
Mental ownership concerns who experiences a mental state. According to David Rosenthal (2005: 342), the proper way to characterize mental ownership is: ‘being conscious of a state as present is being conscious of it as ...
Lane, Timothy, Liang, Caleb
core

