Gait characteristics and clinical relevance of hereditary spinocerebellar ataxia on deep learning

ConclusionSCA gait parameters were characterized by a reduced stride length, slower walking velocity, and longer supporting phase. Additionally, a smaller cerebellar volume correlated with an increased irregularity in gait. Gait characteristics exhibited considerable clinical relevance to hereditary SCA. We conclude that a combination of gait parameters, ataxia scales, and MRVD may represent more objective markers for clinical evaluations of SCA.
Source: Artificial Intelligence in Medicine - Category: Bioinformatics Source Type: research

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ConclusionsCollapse of the hemispheres can occur spontaneously in dogs with hydrocephalus internus. Removal of the haemorrhage can improve clinical signs.
Source: Irish Veterinary Journal - Category: Veterinary Research Source Type: research
Conclusions Palatotomy with its potential adverse effects can usually be avoided even for the treatment of extreme forms of basilar invagination.The link to the video can be found at: [...] Georg Thieme Verlag KG Stuttgart · New YorkArticle in Thieme eJournals: Table of contents  |  Abstract  |  open access Full text
Source: Journal of Neurological Surgery Part B: Skull Base - Category: Neurosurgery Authors: Tags: Skull Base: Operative Videos Source Type: research
We present a case of a sizeable foramen magnum meningioma that was resected through a C1 hemilaminectomy in prone (concorde) position. The patient is a 51-year-old woman with a 3-month history of progressive paresthesia of the upper and lower extremities, followed by gait disturbance, and hand apraxia. There was no complaint of nuchal pain.On magnetic resonance imaging (MRI) a briskly enhancing extra-axial, intradural craniospinal lesion, extending from the basion of the lower clivus, over the tectorial membrane to the middle of the axis' body was discovered. There was significant transposition and compression of the medul...
Source: Journal of Neurological Surgery Part B: Skull Base - Category: Neurosurgery Authors: Tags: Skull Base: Operative Videos Source Type: research
Familial hemophagocytic lymphohistiocytosis Type 2 (FHL2) associated central nervous system (CNS) involvement is less understood in children, especially when considering neurologic manifestations as part of the initial presentation. We conducted a retrospective review of the clinical manifestations and genetic abnormality of four Han Chinese children with FHL2 who were patients at the neurology department of Beijing Children’s Hospital from November 2015 to October 2018. These four patients initially manifested CNS symptoms in their disease presentation, and all four patients were misdiagnosed as having ademyelinatin...
Source: Frontiers in Genetics - Category: Genetics & Stem Cells Source Type: research
We report 2 unusual cases of CFE that showed a nontraumatic etiology and the involvement of a single dominant cerebral artery. Patient concerns: Case 1 was a 33-year-old woman without a history of trauma who visited the emergency room due to hemiparesis and hemisensory deficits. She was a heavy smoker and had used oral contraceptives for several years. Most importantly, she had 2 experiences of autologous fat grafting 2 months previously. Magnetic resonance angiography (MRA) revealed acute occlusion of the right middle cerebral artery. Case 2 was an 80-year-old man suddenly presented with dizziness, ataxia, and left-sid...
Source: Medicine - Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research
Abstract Cerebral palsy, which occurs in two to three out of 1,000 live births, has multiple etiologies resulting in brain injury that affects movement, posture, and balance. The movement disorders associated with cerebral palsy are categorized as spasticity, dyskinesia, ataxia, or mixed/other. Spasticity is the most common movement disorder, occurring in 80% of children with cerebral palsy. Movement disorders of cerebral palsy can result in secondary problems, including hip pain or dislocation, balance problems, hand dysfunction, and equinus deformity. Diagnosis of cerebral palsy is primarily clinical, but magnet...
Source: American Family Physician - Category: Primary Care Authors: Tags: Am Fam Physician Source Type: research
ConclusionThe clinical presentation and genetic studies confirmed a diagnosis of Cockayne syndrome in both sisters caused by compound heterozygous mutations in theERCC8 gene on chromosome 10. Multimodal ocular imaging and systemic findings revealed wide phenotypic variability between the affected siblings.
Source: Documenta Ophthalmologica - Category: Opthalmology Source Type: research
In this study, we performed Whole Exome Sequencing and identified a novel missense variant, c.501C > G; p.(Phe167Leu), in two affected siblings with main manifestations of global developmental delay, motor regression, hypotonia, clonus in lower limbs and muscle bulk atrophy especially in the upper limbs, spasticity and contracture, scoliosis, hip dislocation, oculomotor apraxia, horizontal and vertical nystagmus. In addition, wrist and foot drop due to peripheral axonal neuropathy were observed in these patients as a new clinical finding and cerebellar white matter involvement in brain Magnetic Resonance Imaging (MR...
Source: European Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Eur J Med Genet Source Type: research
Sangeetha Yoganathan, Gautham Arunachal, Lisa Kratz, Mugil Varman, Maya Thomas, Sniya Valsa Sudhakar, Samuel Philip Oommen, Sumita DandaAnnals of Indian Academy of Neurology 2020 23(1):113-117 Succinic semialdehyde dehydrogenase (SSADH) deficiency is an autosomal recessive disorder of gamma-aminobutyric acid metabolism. Children with SSADH deficiency usually manifest with developmental delay, behavioral symptoms, language dysfunction, seizures, hypotonia, extrapyramidal symptoms, and ataxia. Diagnosis of SSADH deficiency is established by an abnormal urine organic acid pattern, including increased excretion of 4-hydroxybu...
Source: Annals of Indian Academy of Neurology - Category: Neurology Authors: Source Type: research
ConclusionThe accurate diagnosis of isolated BPC is not always straightforward, which is especially critical in the context of fetomaternal medicine. A  detailed description of posterior fossa malformations is to be preferred over unspecific terminology.
Source: Clinical Neuroradiology - Category: Neurology Source Type: research
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