keyword
https://read.qxmd.com/read/36108319/neurolathyrism-with-deep-vein-thrombosis-and-bony-exostosis-are-they-new-forms-of-angiolathyrism-and-osteolathyrism
#21
Pradeep Kumar, Arun Prasad, Giridhar M F, Sweta
Lathyriasis or lathyrism is a form of upper motor neuron disease caused by the dietary intake of grass pea ( Lathyrus sativus ). It is an irreversible crippling disease with poor outcomes. The possible pathogenesis is attributed to a toxin present in the legume, i.e., BOAA (beta-n-oxalyl amino L-alanine). Lathyrism can also be associated with vascular involvement resulting in angiolathyrism, which is mediated by a toxin β-aminopropionitrile, and bony involvement resulting in osteolathyrism characterized by bone growth impairment...
August 2022: Curēus
https://read.qxmd.com/read/35928447/a-novel-mutation-in-the-ubap1-gene-causing-hereditary-spastic-paraplegia-a-case-report-and-overview-of-the-genotype-phenotype-correlation
#22
Peiqiang Li, Xiande Huang, Senmao Chai, Dalin Zhu, Huirong Huang, Fengdie Ma, Shasha Zhang, Xiaodong Xie
Hereditary Spastic Paraplegia (HSP) is considered to be one of the common neurodegenerative diseases with marked genetic heterogeneity. Recently, the mutations in ubiquitin-associated protein 1 ( UBAP1 ) have been described in patients with HSP, known as spastic paraplegias 80 (SPG80). Here, we reported a Chinese HSP family presenting a frameshift mutation in the UBAP1 gene leading to complex HSP. Their clinical features encompassed spastic paraparetic gait, exaggerated patellar tendon reflexes, bilateral Babinski signs, and hyperactive Achilles tendon reflex...
2022: Frontiers in Genetics
https://read.qxmd.com/read/35911843/case-report-early-onset-charcot-marie-tooth-2n-with-reversible-white-matter-lesions-repeatedly-mimicked-stroke-or-encephalitis
#23
Huasheng Huang, Yu Zhang, Mingxiu Yang, Baorong Lian, Rui Guo, Liming Cao
INTRODUCTION: Charcot-Marie-Tooth (CMT) disease is a rare group of peripheral neuropathies with high clinical and genetic heterogeneity. CMT type 2N (CMT 2N) is a rare subtype of CMT with few clinical reports. The clinical presentation mimics that of other diseases, frequently leading to misdiagnoses. We present a case of CMT 2N with reversible white matter lesions (WMLs), which repeatedly mimicked stroke or encephalitis. We include a literature review to the improve management of this disease...
2022: Frontiers in Pediatrics
https://read.qxmd.com/read/35768391/-contribution-of-central-motion-conduction-time-to-the-assessment-of-corticospinal-tract-lesions-and-its-clinical-significance
#24
JOURNAL ARTICLE
S N Wang, S R Li, P H Song, X Y Wu, H Lin
Objective: To investigate the association of central motion conduction time (CMCT) with corticospinal tract lesions and its clinical application. Methods: Patients who completed transcranial magnetic stimulation-motor evoked potentials were included from Department of Neurology, Xuanwu Hospital between June 2020 and June 2021. The differences of CMCT values between corticospinal tract sign-positive group and tendon reflex-positive group and the relevant negative groups were compared. The consistency between increased CMCT values and the positive signs of corticospinal tract damage, as well as the significance of CMCT in different neurological diseases were further evaluated...
July 5, 2022: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://read.qxmd.com/read/35524926/vincenzo-neri-1880-1960-and-his-sign-to-detect-leg-weakness-due-to-corticospinal-tract-injury
#25
JOURNAL ARTICLE
Francesco Brigo, Paolo Benna, Simone Venturini, Mariano Martini, Lorenzo Lorusso
The Italian neurologist Vincenzo Neri (1880-1960), a pupil of Joseph Babiński (1857-1932), greatly contributed to refining the semiotics of neurological examination and was a pioneer in medical cinematography. In 1909, Neri proposed a sign to diagnose leg paresis due to a pyramidal tract lesion. According to Neri, if a patient standing with the legs apart and the arms crossed on the chest bends the trunk of the pelvis, when the trunk has almost reached the horizontal line, the leg on the paralyzed side flexes, whereas the unaffected leg remains extended...
August 2022: Neurological Sciences
https://read.qxmd.com/read/35472722/the-prodromal-phase-of-hereditary-spastic-paraplegia-type-4-the-prespg4-cohort-study
#26
JOURNAL ARTICLE
Tim W Rattay, Maximilian Völker, Maren Rautenberg, Christoph Kessler, Isabel Wurster, Natalie Winter, Tobias B Haack, Tobias Lindig, Holger Hengel, Matthis Synofzik, Rebecca Schüle, Peter Martus, Ludger Schöls
This cohort study aims to characterize the prodromal phase of hereditary spastic paraplegia type 4 (SPG4) by biomarkers and clinical signs and symptoms that develop before manifest gait abnormalities. Fifty-six first-degree relatives at risk to develop SPG4 underwent blinded genotyping and standardized phenotyping, including the Spastic Paraplegia Rating Scale (SPRS), complicating symptoms, non-motor affection, Three-Minute-Walk, and neurophysiological assessment. Automated MR image analysis was used to compare volumetric properties...
April 26, 2022: Brain
https://read.qxmd.com/read/35419244/spastic-paraparesis-after-sars-cov-2-infection-without-radiological-changes
#27
Sanela Zukic, Ena Topcic, Renata Hodzic, Osman Sinanovic, Mirjana Vidovic
Coronavirus disease 2019 (COVID-19) is primarily a disease of the respiratory system but severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) may cause several immune-related complications including different neurological disorders, such as myelopathy with paraparesis.In this atypical case a female patient with progressive spastic paraparesis after COVID-19 infection, brisk reflexes and positive Babinski sign, reduced vibratory sensation to the thoracic level, elevated immunoglobulin levels (IgG) in cerebrospinal fluid, but negative magnetic resonance imaging (MRI) of the brain and spine, is presented...
March 2022: Curēus
https://read.qxmd.com/read/35395230/a-comparison-of-clinical-manifestations-of-japanese-encephalitis-between-children-and-adults-in-gansu-province-northwest-china-2005-2020
#28
JOURNAL ARTICLE
Donghua Li, Xiaoshu Zhang, Tiansan Shi, Na Jin, Xiangkai Zhao, Lei Meng, Yanchen Liu, Hongmiao Zheng, Xin Zhao, Juansheng Li, Xiping Shen, Xiaowei Ren
Japanese encephalitis (JE), a mosquito-borne zoonotic disease, has emerged as a major public health concern around the world. Previous research has shown that JE has serious sequelae, and the recent shift in the population from children to adults presents a significant challenge for JE treatment and prevention. Therefore, we examined the differences in clinical manifestations (clinical symptoms, clinical signs, complications, and clinical typing) of JE between children and adults over the 15 years in Gansu Province to provide a theoretical basis for better response to JE treatment...
April 5, 2022: Acta Tropica
https://read.qxmd.com/read/34964030/a-not-to-miss-cause-of-severe-cervical-spine-pain-in-a-patient-with-rheumatoid-arthritis-a-case-based-review
#29
Alexandros A Drosos, Eleftherios Pelechas, Athanasios N Georgiadis, Paraskevi V Voulgari
BACKGROUND: Rheumatoid arthritis (RA) may affect any diarthrodial joint with a predilection on the peripheral skeleton in a symmetrical manner. When the axial skeleton is affected, it is the cervical spine (CS) that gets involved with potentially detrimental effects, if not treated promptly. CASE: A 60-year-old female suffering from RA presented with severe neck pain and stiffness, difficulty of standing and walking with brisk tendon reflexes, Babinski sign positive, and clonus...
September 2021: Mediterranean journal of rheumatology
https://read.qxmd.com/read/34630290/infantile-onset-charcot-marie-tooth-disease-with-pyramidal-features-and-white-matter-abnormalities-due-to-a-de-novo-morc2-gene-variant-a-case-report-and-brief-review-of-the-literature
#30
Ivana Frongia, Susanna Rizzi, Margherita Baga, Laura Maria Ceteroni, Carlotta Spagnoli, Grazia Gabriella Salerno, Daniele Frattini, Milja Kaare, Francesco Pisani, Carlo Fusco
Background: Charcot-Marie-Tooth (CMT) is the most frequent group of inherited neuropathies and includes several heterogeneous phenotypes. Over 80 causative genes have been described so far. Variants in the microrchidia family CW-type zinc finger 2 ( MORC2 ) gene have been described in several axonal polyneuropathy (CMT2) patients with childhood or adult onset. Occasionally more complex phenotypes with delayed milestones, severe hypotonia, intellectual disability, dystonic postures, pyramidal signs, and neuroimaging abnormalities have been reported...
2021: Frontiers in Neurology
https://read.qxmd.com/read/34449818/epidemiological-study-of-cervical-cord-compression-and-its-clinical-symptoms-in-community-dwelling-residents
#31
JOURNAL ARTICLE
Toru Hirai, Koji Otani, Miho Sekiguchi, Shin-Ichi Kikuchi, Shin-Ichi Konno
BACKGROUND: Degenerative compressive myelopathy (DCM) is caused by cervical cord compression. The relationship between the magnitude and clinical findings of cervical cord compression has been described in the literature, but the details remain unclear. This study aimed to clarify the relationship between the magnitude and clinical symptoms of cervical cord compression in community-dwelling residents. METHODS: The present study included 532 subjects. The subjective symptoms and the objective findings of one board-certified spine surgeon were assessed...
2021: PloS One
https://read.qxmd.com/read/34447835/autism-with-dysphasia-accompanied-by-mental-retardation-caused-by-foxp1-exon-deletion-a-case-report
#32
Shuang-Zhu Lin, Xin-Yu Zhou, Wan-Qi Wang, Kai Jiang
BACKGROUND: Forkhead box protein 1 (FOXP1) (OMIM: 605515) at chromosomal region 3p14.1 plays an important regulatory role in cell development and functions by regulating genetic expression. Earlier studies have suggested that FOXP1 , an oncogene, is capable of initiating tumorigenicity depending on the cell type. FOXP1 also plays an important role in regulating the cell development and functions of the immune system, e.g. , regulating B-cell maturation and mononuclear phagocyte differentiation, and in the occurrence and development of various immune diseases...
August 16, 2021: World Journal of Clinical Cases
https://read.qxmd.com/read/34439639/sarcotubular-myopathy-due-to-novel-trim32-mutation-in-association-with-multiple-sclerosis
#33
Margarita Marchuk, Tetiana Dovbonos, Halyna Makukh, Orest Semeryak, Yevheniya Sharhorodska
Azerbaijani 28-year-old female showed weakness (MRC (Medical Research Council Scale for Muscle Strength) grade 4 in the proximal part of the upper and MRC grade 2-3 in the lower extremities), difficulty in stair lifting, positive symptom of Hoover's rising, «waddling gait», decline deep reflexes symmetrical, lack of surface reflexes, positive Babinsky's reflex on the right, urinary incontinence during sneezing, prolonged walking and exercise from puberty. Additional methods made it possible to identify minor violations of conduction of the left ventricle, electromyography signs of primary muscular disease with predominant involvement of the proximal muscles of the lower extremities, elevation of serum creatine kinase (746...
July 31, 2021: Brain Sciences
https://read.qxmd.com/read/34243153/the-associations-between-radiological-and-neurological-findings-of-degenerative-cervical-myelopathy-radiological-analysis-based-on-kinematic-ct-myelography-and-evoked-potentials-of-the-spinal-cord
#34
JOURNAL ARTICLE
Masahiro Funaba, Yasuaki Imajo, Hidenori Suzuki, Norihiro Nishida, Yuji Nagao, Takuya Sakamoto, Kazuhiro Fujimoto, Takashi Sakai
OBJECTIVE: Neurological and imaging findings play significant roles in the diagnosis of degenerative cervical myelopathy (DCM). Consistency between neurological and imaging findings is important for diagnosing DCM. The reasons why neurological findings exhibit varying sensitivity for DCM and their associations with radiological findings are unclear. This study aimed to identify associations between radiological parameters and neurological findings in DCM and elucidate the utility of concordance between imaging and neurological findings for diagnosing DCM...
July 9, 2021: Journal of Neurosurgery. Spine
https://read.qxmd.com/read/34226258/acute-longitudinal-extensive-transverse-myelitis-secondary-to-asymptomatic-sars-cov-2-infection
#35
JOURNAL ARTICLE
Gabriel Lee
A 35-year-old woman, 6 months post partum, presented with acute onset back pain at the T8 level progressing to bilateral lower limb weakness and sensory loss with urinary retention and constipation. This patient had a pre-existing inflammatory disease, having recently developed ulcerative colitis antenatally. Five days prior to admission, she had tested positive asymptomatically on a SARS-CoV-2 reverse-transcriptase PCR nasopharyngeal swab. The positive swab result was confirmed on admission. Clinical examination revealed bilaterally exaggerated knee reflexes, lower limb weakness and positive Babinski's sign...
July 5, 2021: BMJ Case Reports
https://read.qxmd.com/read/34128599/first-organ-donation-after-circulatory-death-following-withdrawal-of-life-sustaining-treatment-in-korea-a-case-report
#36
Eunsil Jeong, Seungmin Baik, Hoonsung Park, Jaesook Oh, Yongmin Lee, Jae Myeong Lee
In February 2018, the Withdrawal of the Life-sustaining Treatment (WLST) Decision Act was legalized in Korea. Donation after circulatory death (DCD) after WLST was classified as DCD category III. We report the first case of successful organ donation after WLST in Korea. A 52-year-old male who experienced cerebral hemorrhage was a potential brain-dead donor with donation consent. During the first brain death examination, Babinski reflex was present, which disappeared two days later. Then, electroencephalography was performed five times at intervals of 2 to 3 days, according to the recommendation of a neurologist...
June 14, 2021: Journal of Korean Medical Science
https://read.qxmd.com/read/33812066/-seesaw-like-cervical-ossification-of-the-posterior-longitudinal-ligament
#37
Jia-Nan Zhang, Ding-Jun Hao
Ossification of the posterior longitudinal ligament (OPLL) is a pathological process in which lamellar bone is deposited at the posterior longitudinal ligament and can lead to a limited range of cervical motion and spinal cord compression. A 64-year-old man presented to the clinic department with a 10-month history of worsening clumsiness in the hands and impaired gait, and he occasionally had a feeling of an electric shock in the limbs when the neck was flexed. The physical examination revealed atrophy of the intrinsic hand muscles, rapid reflexes in the lower extremities, and positive Hoffman sign and Babinski sign results...
March 31, 2021: World Neurosurgery
https://read.qxmd.com/read/33504751/-a-case-of-proximal-type-hirayama-disease-associated-with-neck-axial-rotation
#38
JOURNAL ARTICLE
Uka Tsuzuki, Tetsuo Ando, Makoto Sugiura, Osamu Kawakami
Hirayama disease is characterized by juvenile onset of unilateral muscular atrophy of a distal upper extremity. The pathogenic mechanism of Hirayama disease is cervical cord compression by the posterior dura with forward displacement in the neck flexion position. A few cases of 'proximal-type Hirayama disease' have been described as showing muscular weakness and atrophy of the proximal upper extremities caused by the pathogenic mechanism similar to that of Hirayama disease. We report herein the case of a 16-year-old boy with proximal-type Hirayama disease, who developed symptoms after he began kyudo (Japanese traditional archery)...
January 26, 2021: Rinshō Shinkeigaku, Clinical Neurology
https://read.qxmd.com/read/33116939/a-de-novo-ctnnb1-novel-splice-variant-in-an-adult-female-with-severe-intellectual-disability
#39
Willem M A Verhoeven, Jos I M Egger, Rob E Jongbloed, Marloes Meijer van Putten, Marieke de Bruin-van Zandwijk, Anne-Suus Zwemer, Rolph Pfundt, Marjolein H Willemsen
The catenin beta-1 ( CTNNB1 ) gene, encoding a sub-unit of the cadherin/catenin protein complex that is involved in the Wnt signalling pathway important for proper interneuron development, is considered to be causative for the rare autosomal dominant mental retardation syndrome, formerly called MRD19 but later renamed neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV). Its main characteristics are moderate to severe intellectual disability (ID), disruptive autistic behaviours, microcephaly, absent or limited speech, facial dysmorphisms, peripheral hypertonia/spasticity, motor delay and visual defects...
2020: International Medical Case Reports Journal
https://read.qxmd.com/read/32783572/assessment-of-the-cutaneous-trunci-reflex-in-neurologically-healthy-cats
#40
JOURNAL ARTICLE
Kari D Foss, Devon W Hague, Laura Selmic
OBJECTIVES: The aim of this study was to perform the cutaneous trunci reflex (CTR) in neurologically normal cats using two different instruments and determine how body condition score (BCS), body circumference, age, sex and instrument type may affect this reflex. METHODS: Sixty-five cats without evidence of neurologic disease were prospectively enrolled. Cats were randomly assigned to have the reflex tested first using a pair of hemostatic forceps or the integrated Babinski tip of an MDF Babinski Buck Reflex Hammer...
August 12, 2020: Journal of Feline Medicine and Surgery
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