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Assessment of Cognitive Function in Cancer Patients
Published in David M. Dush, Barrie R. Cassileth, Dennis C. Turk, Psychosocial Assessment in Terminal Care, 2014
Thomas E. Oxman, Paula P. Schnurr, Peter M. Silberfarb
Both Basavaraju et al. (1981) and Jenkyn et al. (1977) have formally tested the value of a battery of primitive reflexes for detection of cerebral dysfunction. Focusing primarily on dementia, Basavaraju et al. found that the face-hand test along with the large-small figure perception test were best able to discriminate between healthy elderly and cognitively impaired elderly. The face-hand test was more specific with less false positives, but also less sensitive because of more false negatives. Basavaraju et al. also noted a bilateral palmomental reflex and extinction in the face-hand test as normal concomitants of aging. In contrast, a unilateral positive palmomental reflex was significantly present in elderly patients with focal neurological damage.
The palmomental reflex in amyotrophic lateral sclerosis – a clinical sign of executive or motor dysfunction?
Published in Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 2021
Maximilian Vidovic, Elisa Aust, Andreas Hermann, René Günther
The palmomental reflex (PMR) is a clinical sign commonly observed in various neurological diseases such as Parkinson’s disease, stroke, brain tumors, dementia, and also motor neuron diseases (1) with higher incidence reported in patients with amyotrophic lateral sclerosis (ALS) compared to controls and other neurological diseases (2–4). PMR has originally been described and attributed to lesions of the upper pyramidal tract by Marinesco and Radovici in 1920 in an ALS patient and has been discussed as a unique nociceptive skin reflex, lacking an appropriate withdrawal response (5,6). The motor nuclei of the facial nerve constitute the origin of the efferent fibers whereas corticobulbar fibers and other subcortical structures may mediate reflex modulating signals such as intensity and habituation. By loss of modulation and its inhibitory effects, PMR may reappear or present in a brisk manner (1,4). PMR is considered to be a harbinger of corticobulbar involvement in ALS, most likely due to degenerating corticobulbar projections (3,4). PMR has recently also been linked to cognitive dysfunction and different forms of dementia as a sign of pathological processes in the frontal lobe (“frontal release sign”), indicating pathways other than the corticobulbar tract (3,7,8). Cognitive decline, predominantly in frontal lobe functions has been commonly described in ALS patients beyond motor dysfunction (9). The aim of this study was to investigate the impact of motor dysfunction versus neurocognitive impairment on the appearance of PMR in ALS patients.
Novel FUS mutation Y526F causing rapidly progressive familial amyotrophic lateral sclerosis
Published in Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 2021
Zhang-Yu Zou, Chun-Hui Che, Shu-Yan Feng, Xiu-Ying Fang, Hua-Pin Huang, Chang-Yun Liu
The other FUS p.R521C mutation carrier was a 30-year-old male presented with lumbar pain and had some difficulties in bending down to lift heavy things. Three months later he developed weakness of the left lower limb. The symptoms spread quickly to involve the right lower limb. Seven months after onset he developed weakness of upper limbs. He felt unsteady when walking and fell down several times. On neurologic examination at ten months after disease onset, obvious atrophy and fasciculations were observed in four limbs. The muscle strength was MRC 4/5 in distal upper limbs and MRC 4/5 in proximal upper limbs, MRC 3/5 in the right lower limb and left leg, MRC 2/5 in the left foot. The deep tendon reflexes were hyperactive in upper limbs but decreased in lower limbs. The palmomental reflex and Babinski sign were not elicited. The sensory was normal. Electromyography demonstrated acute denervation in all limbs and thoracic muscles, as well as chronic reinnervation in all limbs and sternocleidomastoid muscles. ALSFRS-R score was 36. He became bedridden one year after onset. He began to develop dysarthria and dysphagia 14 months after onset and resulted in a weight loss. The patient died 18 months after symptom onset due to respiratory failure. Both his parents were healthy and alive.
An exon 5 mutation (c.425G>C, p.Gly141Ala) in the SOD1 gene in a Chinese family associated with incomplete penetrance
Published in Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 2020
Si-Qi Dong, Xiao-Ni Liu, Wen-Bo Yang, Yan-Ni Zhou, Jiu-Cun Wang, Xiang-Jun Chen
The proband’s cousin (III-11), 46-year-old female, complained a four-year history of weakness in both lower limbs, one year of weakness in the right great thenar, and half a year of hoarseness. Physical examination showed normal muscle strength except for 4/5 of grip force of the right hand and 4/5 of muscles of bilateral lower limbs. Brisk deep tendon reflex was detected in the right upper limb. Palmomental reflex was positive bilaterally. Babinski’s and Chaddock’s signs were present on the left side. NCV/EMG showed the following: normal motor and sensory conduction velocity except decreased conduction velocity in the distal right median nerve; reduced peroneal and tibialis motor compound motor action potentials; fibrillations or positive sharp waves in muscles of the lower extremities and T8 paraspinal muscle; large motor units and reduced recruitment in muscles of the upper and lower extremities, rectus abdominis, T8 paraspinal muscle, trapezius, and lingualis.