keyword
https://read.qxmd.com/read/36762948/upregulated-5-ht1a-receptor-regulation-of-lower-urinary-tract-function-in-rats-following-complete-spinal-cord-injury
#21
JOURNAL ARTICLE
Ching-Yi Lin, Kevin Li, Rajaa Thalluri, Yu-Shang Lee
Spinal cord injury (SCI) above the lumbosacral level often leads to dysfunction of the lower urinary tract (LUT) including detrusor hyperreflexia, wherein bladder compliance is low, baseline pressures are increased, and filling is accompanied by numerous non-voiding contractions (NVCs) referred to as neurogenic detrusor overactivity. Here, we investigate the expression levels of the serotonin 1A (5-HT1A) receptor in segments both rostral and caudal to the injured site, as well as the effects of blocking 5-HT1A receptor on micturition using pharmacological interventions in spinally-intact rats or T8 complete SCI rats...
February 10, 2023: Journal of Neurotrauma
https://read.qxmd.com/read/36622199/plp1-gene-mutations-cause-spastic-paraplegia-type-2-in-three-families
#22
JOURNAL ARTICLE
Li Yao, Zeyu Zhu, Chao Zhang, Wotu Tian, Li Cao
OBJECTIVE: Spastic paraplegia type 2 (SPG2) is an X-linked recessive (XLR) form of hereditary spastic paraplegia (HSP) caused by mutations in proteolipid protein 1 (PLP1) gene. We described the clinical and genetic features of three unrelated families with PLP1 mutations and reviewed PLP1-related cases worldwide to summarize the genotype-phenotype correlations. METHODS: The three probands were 23, 26, and 27 years old, respectively, with progressively aggravated walking difficulty as well as lower limb spasticity...
January 9, 2023: Annals of Clinical and Translational Neurology
https://read.qxmd.com/read/36514466/ischaemic-stroke-as-the-first-presentation-of-antineutrophilic-cytoplasmic-autoantibody-associated-vasculitis
#23
John Chuan Nguyen Tran, Joshua Haron Abasszade, Yew Li Dang, Douglas Ewan Crompton
The diagnosis of antineutrophil cytoplasmic autoantibody-associated vasculitis in first-episode strokes is particularly challenging, especially in patients lacking features of systemic vasculitis. We present the case of a 71-year-old woman with positive myeloperoxidase antineutrophil cytoplasmic antibodies and negative proteinase 3 autoantibodies. The patient presented with 1 week history of pyramidal weakness in both upper and lower limbs, hyperreflexia, and clonus. Magnetic resonance imaging of the brain demonstrated widespread bihemispheric cortical and deep white matter acute infarcts, which are consistent with features of stroke secondary to vasculitis...
December 2022: Clinical Case Reports
https://read.qxmd.com/read/36381733/riluzole-and-edavarone-the-hope-against-amyotrophic-lateral-sclerosis
#24
REVIEW
Aditi V Rokade, Pallavi Yelne, Anamika Giri
Amyotrophic lateral sclerosis (ALS) is one of the most frequent motor neuron illnesses. Motor neuron illnesses are various disorders that include upper and lower motor neuron abnormalities. Amyotrophic lateral sclerosis accounts for roughly 80% of motor neuron disorders. ALS is a fatal motor neuron disease that involves the loss of motor neurons in the spinal cord and brain, resulting in gliosis and muscle weakening and wasting in the upper, lower, and respiratory muscles, reducing life expectancy to 2-5 years from the onset of symptoms...
October 2022: Curēus
https://read.qxmd.com/read/36323524/clinical-reasoning-a-young-adult-man-with-cognitive-changes-gait-difficulty-and-renal-insufficiency
#25
JOURNAL ARTICLE
Brian Stamm, Rebecca DiBiase, Glenn Ryan Harris, Hagop Kaprielian, Nupur Brahmbhatt, Allan D Wu, Joshua Baker, Eric M Liotta
A 22-year-old right-handed man with recently diagnosed gout and renal insufficiency presented with 3 months of progressive gait instability and cognitive changes. He initially presented to an outside institution and underwent a broad workup, but an etiology for his symptoms was not found. On subsequent presentation to our institution, his examination revealed multidomain cognitive dysfunction, spasticity, hyperreflexia, and clonus. A broad workup was again pursued and was notable for an MRI of the brain, revealing cortical atrophy advanced for his age, bland CSF, and a weakly positive serum acetylcholine receptor ganglionic neuronal antibody of unclear significance...
January 24, 2023: Neurology
https://read.qxmd.com/read/36168676/primary-degeneration-of-oculomotor-motor-and-somatosensory-systems-and-auditory-and-visual-pathways-in-spinocerebellar-ataxia-type-7-a-clinicopathological-study-in-a-japanese-autopsy-case
#26
Haruka Ouchi, Hideaki Ishiguro, Ken Shibano, Kenju Hara, Masashiro Sugawara, Katsuhiko Enomoto, Hajime Miyata
Spinocerebellar ataxia type 7 (SCA7) is an autosomal dominant neurodegenerative disorder characterized by progressive cerebellar ataxia associated with retinal degeneration. The disease is rare in Japan, and this is the first full description of clinicopathological findings in a Japanese autopsy case of genetically confirmed SCA7 having 49 cytosine-adenine-guanine (CAG) trinucleotide repeats in the ataxin 7 gene. A 34-year-old Japanese man with no family history of clinically apparent neurodegenerative diseases presented with gait disturbance, gradually followed by truncal instability with progressive visual loss by the age of 42 years...
September 27, 2022: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://read.qxmd.com/read/35624917/co-occurrence-of-multiple-sclerosis-and-amyotrophic-lateral-sclerosis-in-an-fus-mutated-patient-a-case-report
#27
Luigi Fiondella, Francesco Cavallieri, Elena Canali, Maria Paola Cabboi, Alessandro Marti, Francesca Sireci, Alena Fiocchi, Gloria Montanari, Sara Montepietra, Franco Valzania
A concomitant presentation of relapsing remitting multiple sclerosis (RRMS) and amyotrophic lateral sclerosis (ALS) is quite rare. However, a review of the literature showed an increased co-occurrence of both diseases, including in genetically determined cases. We report the case of a 49-year-old woman with a history of RRMS who developed a progressive subacute loss of strength in her left arm. The patient’s father died from ALS, and her paternal uncle had Parkinson’s disease. Brain and cervical MRIs were performed, and new demyelinating lesions were excluded...
April 21, 2022: Brain Sciences
https://read.qxmd.com/read/35310830/new-spinocerebellar-ataxia-subtype-caused-by-samd9l-mutation-triggering-mitochondrial-dysregulation-sca49
#28
JOURNAL ARTICLE
Marc Corral-Juan, Pilar Casquero, Natalia Giraldo-Restrepo, Steve Laurie, Alicia Martinez-Piñeiro, Raidili Cristina Mateo-Montero, Lourdes Ispierto, Dolores Vilas, Eduardo Tolosa, Victor Volpini, Ramiro Alvarez-Ramo, Ivelisse Sánchez, Antoni Matilla-Dueñas
Spinocerebellar ataxias consist of a highly heterogeneous group of inherited movement disorders clinically characterized by progressive cerebellar ataxia variably associated with additional distinctive clinical signs. The genetic heterogeneity is evidenced by the myriad of associated genes and underlying genetic defects identified. In this study, we describe a new spinocerebellar ataxia subtype in nine members of a Spanish five-generation family from Menorca with affected individuals variably presenting with ataxia, nystagmus, dysarthria, polyneuropathy, pyramidal signs, cerebellar atrophy and distinctive cerebral demyelination...
2022: Brain communications
https://read.qxmd.com/read/35110282/successful-treatment-of-quadriparesis-from-radiation-myelopathy-with-bevacizumab-in-a-patient-with-metastatic-breast-cancer
#29
JOURNAL ARTICLE
Nirja Shah, Surabhi Ranjan
Radiation myelopathy (RM) is rare condition defined as injury to the spinal cord by ionising radiation. Due to improved survival in patients with advanced malignancies, there is a renewed interest in recognition and treatment of RM. There are very few reports on treatment of RM. A 64-year-old woman with metastatic oestrogen receptor, progesterone receptor weakly positive and human epidermal growth factor 2 negative breast, stereotactic radiosurgeries to brain metastases and a history of reradiation to the cervical spinal cord presented with neck pain, arm weakness, hyperreflexia and gait ataxia...
February 2, 2022: BMJ Case Reports
https://read.qxmd.com/read/35103140/primary-progressive-multiple-sclerosis-in-a-portuguese-patient-with-neurofibromatosis-type-1
#30
Inês Carvalho, Miguel Quintas-Neves, Joana Pinto, Ana Filipa Santos, João Pereira
Neurofibromatosis type 1 (NF1) is a frequent genetic neurocutaneous syndrome and multiple sclerosis (MS) is an acquired demyelinating disease of the central nervous system. The association of both these diseases is rare. In this case report, we describe a 25-year-old man with gait impairment, upper limbs tremor, slurred speech, and urinary symptoms in the form of urinary urgency and incontinence. These symptoms started a year earlier and had a progressive course. Examination revealed scattered café-au-lait spots, right ptosis, bilateral horizontal and vertical nystagmus, mild dysarthria, quadriparesis with generalized hyperreflexia and bilateral Babinski signs, upper limb tremor, bilateral proprioceptive errors, bilateral appendicular dysmetria, and severe gait ataxia...
December 2021: Curēus
https://read.qxmd.com/read/35034745/neuroplasticity-of-spinal-cord-injury-and-repair
#31
REVIEW
John H Martin
The sudden loss of movement after spinal cord injury (SCI) is life-changing and is a major impetus to study spinal cord motor system plasticity and devise novel repair strategies. This review focuses on the motor cortex and the corticospinal tract, which are key to producing voluntary movements. The motor cortex projects directly to the spinal cord, via the corticospinal tract, and indirectly, via relays in the brain stem. With loss of the corticospinal tract after SCI, the indirect paths may bypass the injury and play an important role in voluntary control...
2022: Handbook of Clinical Neurology
https://read.qxmd.com/read/34624327/early-movement-restriction-deteriorates-motor-function-and-soleus-muscle-physiology
#32
JOURNAL ARTICLE
Marie-Hélène Canu, Valérie Montel, Julie Dereumetz, Tanguy Marqueste, Patrick Decherchi, Jacques-Olivier Coq, Erwan Dupont, Bruno Bastide
Children with low physical activity and interactions with environment experience atypical sensorimotor development and maturation leading to anatomical and functional disorganization of the sensorimotor circuitry and also to enduring altered motor function. Previous data have shown that postnatal movement restriction in rats results in locomotor disturbances, functional disorganization and hyperexcitability of the hind limb representations in the somatosensory and motor cortices, without apparent brain damage...
January 2022: Experimental Neurology
https://read.qxmd.com/read/34509238/clinical-characteristics-of-children-with-guillain-barr%C3%A3-syndrome-and-factors-associated-with-disease-severity
#33
JOURNAL ARTICLE
Han-Yu Luo, Xiu-Juan Li, Min Cheng, Juan Wang, Ling-Ling Xie, Zheng-Xiong Yao, Li Jiang
Guillain-Barré syndrome (GBS) is the leading cause of pediatric acute flaccid paralysis. This study aimed to summarize the clinical features of children with GBS and to explore factors associated with the severity of weakness. One hundred and twenty-two children with GBS (73 males and 49 females) were retrospectively analysed. The median age (IQR) at diagnosis was 4.0 years (2.9-7.2 years), and 26.2% of patients were at the age of 2-3 years. Of the 122 cases, 71 (58.2%) had an antecedent infection, 58 (47...
October 2021: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://read.qxmd.com/read/34462376/-differentiating-between-htlv-1-associated-myelopathy-and-amyotrophic-lateral-sclerosis-a-case-report
#34
JOURNAL ARTICLE
Kimiharu Fuseya, Nobuaki Yoshikura, Masahiko Kato, Yuichi Hayashi, Akio Kimura, Takayoshi Shimohata
We present the case of a 72-year-old woman with slowly progressive spastic paraplegia and painful muscle spasms of the lower limbs. Spastic paraplegia began in the left lower extremity and extended to the right lower extremity 4 months later. We considered the diagnosis of amyotrophic lateral sclerosis (ALS) because of the left-dominant spastic paraplegia of bilateral lower limbs and due to the presence of fasciculation, hyperreflexias, and pathological reflexes. However, cerebrospinal fluid (CSF) examination revealed that cell count and protein values were increased...
September 2021: Brain and Nerve, Shinkei Kenkyū No Shinpo
https://read.qxmd.com/read/34429295/trousseau-s-syndrome-associated-with-an-ovarian-borderline-tumour
#35
JOURNAL ARTICLE
Tsubasa Betsuyaku, Toshinori Nishizawa, Naofumi Higuchi, Satoki Misaka
A 71-year-old woman was admitted to our hospital because of sudden onset of weakness on the left side of her body. Her medical history was unremarkable, and on physical examination, hemiparesis and hyperreflexia on the left side were found. MRI of the brain showed multiple areas of restricted diffusion in both parietal lobes and in the cerebellum, consistent with embolic shower. Magnetic resonance angiography showed no abnormal findings. A contrast-enhanced CT scan revealed multiple pulmonary emboli. Abdominal MRI showed a 135 mm left ovarian tumour composed of a solid and a cystic component with liquid level formation...
August 24, 2021: BMJ Case Reports
https://read.qxmd.com/read/34312302/clinical-reasoning-an-unexpected-response-to-therapy-in-a-patient-with-hiv-and-focal-seizures
#36
REVIEW
Lorraine Chishimba, Mashina Chomba, Stanley Zimba, Tilele Mwansa, Wilmot Sinyangwe, Humphrey Kunda, Lottie Hachaambwa, Deanna Saylor
We present the case of a 23-year-old right-handed man who presented to an emergency department in Lusaka, Zambia, with new-onset headaches and focal seizures. He was on combination antiretroviral therapy (cART) for HIV and had been started on antituberculous therapy at his local clinic 2 weeks before presentation, based on chest X-ray findings. On examination, he had subtle weakness and hyperreflexia in his left upper extremity. The remainder of the neurologic examination was normal. Brain CT scan revealed a single, ring-enhancing, heterogenous mass in the right posterior parietal lobe with marked vasogenic edema...
December 7, 2021: Neurology
https://read.qxmd.com/read/34258953/on-clinical-findings-of-bickerstaff-s-brainstem-encephalitis-in-childhood
#37
JOURNAL ARTICLE
Giulia Messina, Sarah Sciuto, Alessandra Fontana, Filippo Greco, Claudia F Oliva, Maria Grazia Pappalardo, Annamaria Sapuppo, Pierluigi Smilari, Piero Pavone, Rosario Foti
A short review on the clinical presentation of pediatrics cases of Bickerstaff brain encephalitis emphasizing the broad clinical spectrum of the disease. Cases of pediatric Bickerstaff's brainstem encephalitis collected on three electronic medical databases (PubMed, Cochrane Library and Scopus Web of Science) are reviewed. The inclusion criteria of the cases were based on the clinical characteristics of the disorder in the pediatric age. We reviewed 20 articles on Bickerstaff's brainstem encephalitis, identifying 40 pediatric cases focused on the clinical symptoms...
June 30, 2021: Journal of Integrative Neuroscience
https://read.qxmd.com/read/34111619/further-delineation-of-the-clinical-and-pathologic-features-of-hikeshi-related-hypomyelinating-leukodystrophy
#38
JOURNAL ARTICLE
Guy Helman, Ayelet Zerem, Akshata Almad, Julia L Hacker, Sarah Woidill, Sunetra Sase, Alexandra N LeFevre, Josef Ekstein, Martin M Johansson, Chloe A Stutterd, Ryan J Taft, Cas Simons, Judith B Grinspan, Amy Pizzino, Johanna L Schmidt, Brian Harding, Yoel Hirsch, Angela N Viaene, Aviva Fattal-Valevski, Adeline Vanderver
BACKGROUND: A recurrent homozygous missense variant, c.160G>C;p.(Val54Leu) in HIKESHI, was found to cause a hypomyelinating leukodystrophy with high frequency in the Ashkenazi Jewish population. We provide extended phenotypic classification of this disorder based on clinical history of a further seven affected individuals, assess carrier frequency in the Ashkenazi Jewish population, and provide a neuropathological study. METHODS: Clinical information, neuroimaging, and biosamples were collected...
May 14, 2021: Pediatric Neurology
https://read.qxmd.com/read/34047063/can-tendon-reflexes-be-elicited-by-both-stretch-and-vibration-in-man
#39
JOURNAL ARTICLE
Peer Tfelt-Hansen, Pirgit Meritam Larsen, Ulla van Deurs, Martin Fabricius
AIM OF STUDY: When the biceps tendon is tapped, a contraction is elicited in the biceps muscle. This also occurs with tapping of the radial bone, and it has been suggested that vibration is a stimulus for deep tendon reflexes. We investigated whether the normal stimulus for the deep tendon reflex is a sudden stretch, a phasic vibration, or both. Furthermore, we investigated the importance of forearm position for the reflex response in controls and stroke patients. METHODS: We investigated 50 neurological outpatients without clinical signs of neurological disorders in the arms...
July 2021: Brain and Behavior
https://read.qxmd.com/read/33975651/idiopathic-myelitis-presenting-as-brown-s%C3%A3-quard-syndrome-two-case-reports-and-a-review-of-the-literature
#40
REVIEW
Xi Peng, Liang Wang
BACKGROUND: Brown-Séquard syndrome often occurs in spinal cord injury, and few myelitis patients present with Brown-Séquard syndrome. CASE PRESENTATION: A 33-year-old Han man was admitted with neck pain plus numbness in the right limbs for 2 days and weakness in the left limbs for 1 day. Examination was significant for left limbs with grade 4 muscle power, positive left Babinski sign, diminished vibration sensation in the left limbs and decreased pain below the right clavicle dermatome...
May 12, 2021: Journal of Medical Case Reports
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