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Journal of the American Veterinary... Mar 2018
Topics: Animals; Diagnosis, Differential; Dog Diseases; Dogs; Female; Hemangioblastoma; Hindlimb; Magnetic Resonance Imaging; Paraparesis; Spinal Cord Neoplasms; Thoracic Vertebrae
PubMed: 29461165
DOI: 10.2460/javma.252.5.533 -
Annals of Physical and Rehabilitation... Dec 2016People with hereditary and spontaneous spastic paraparesis (HSSP) report that their legs are stiffer and walking is slower when their legs are cold.
BACKGROUND
People with hereditary and spontaneous spastic paraparesis (HSSP) report that their legs are stiffer and walking is slower when their legs are cold.
OBJECTIVES
This study explored the effects of prolonged superficial cooling and warming of the lower leg on walking speed and local measures of neuromuscular impairments.
METHODS
This was a randomised pre- and post-intervention study of 22 HSSP participants and 19 matched healthy controls. On 2 separate occasions, one lower leg was cooled or warmed. Measurements included walking speed and measures of lower limb impairment: ankle movement, passive muscle stiffness, spasticity (stretch reflex size), amplitude and rate of force generation in dorsi- and plantarflexors and central and peripheral nerve conduction time/velocity.
RESULTS
For both participants and controls, cooling decreased walking speed, especially for HSSP participants. For both groups, cooling decreased the dorsiflexor rate and amplitude of force generation and peripheral nerve conduction velocity and increased spasticity. Warming increased dorsiflexor rate of force generation and nerve conduction velocity and decreased spasticity.
CONCLUSIONS
Superficial cooling significantly reduced walking speed for people with HSSP. Temperature changes were associated with changes in neuromuscular impairments for both people with spastic paraparesis and controls. This study does not support the use of localised cooling in rehabilitation for people with spastic paraparesis as reported in other neurological conditions. Rehabilitation interventions that help prevent heat loss (insulation) or improve limb temperature via passive or active means, particularly when the legs and/or environment are cool, may benefit people with spastic paraparesis.
Topics: Adult; Aged; Aged, 80 and over; Ankle; Case-Control Studies; Cryotherapy; Female; Humans; Leg; Male; Middle Aged; Muscle Spasticity; Muscle, Skeletal; Neural Conduction; Paraparesis, Spastic; Physical Therapy Modalities; Random Allocation; Rewarming; Walking Speed; Young Adult
PubMed: 27262978
DOI: 10.1016/j.rehab.2016.04.006 -
The Journal of Clinical Investigation Jan 2004The family of neurodegenerative diseases known as hereditary spastic parapareses have diverse genetic loci, yet there is a remarkable convergence in the neuropathologic... (Review)
Review
The family of neurodegenerative diseases known as hereditary spastic parapareses have diverse genetic loci, yet there is a remarkable convergence in the neuropathologic and neurologic phenotype. A report describing the construction of a transgenic mouse with a deletion of a nuclear-encoded mitochondrial protein involved in the regulation of oxidative phosphorylation suggests that this family of diseases may reflect activation of a final common pathway involving synaptic dysfunction that progresses to destruction of the presynaptic nerve terminal and axon.
Topics: ATPases Associated with Diverse Cellular Activities; Animals; Cell Nucleus; Gene Deletion; Humans; Membrane Potentials; Metalloendopeptidases; Mice; Mice, Transgenic; Mitochondria; Models, Biological; Oxidative Stress; Oxygen; Phenotype; Phosphorylation; Spastic Paraplegia, Hereditary; Synapses
PubMed: 14722610
DOI: 10.1172/JCI20783 -
Arquivos de Neuro-psiquiatria Dec 2009We aimed to better understand the involvement of the corticospinal tract, assessed by non-invasive transcranial stimulation, in order to determine the actual involvement... (Review)
Review
OBJECTIVE
We aimed to better understand the involvement of the corticospinal tract, assessed by non-invasive transcranial stimulation, in order to determine the actual involvement of the motor system in patients with HAM/TSP and AIDS.
METHOD
An exhaustive MEDLINE search for the period of 1985 to 2008 for all articles cross-referenced for 'HTLV-I, HTLV-II, HTLV-III and HIV, HIV1, HIV2, evoked potential, motor evoked potential, high voltage electrical stimulation, transcranial magnetic stimulation, magnetic stimulation, corticomotor physiology, motor pathways, acquired immunodeficiency syndrome, AIDS, SIDA, tropical spastic paraparesis, HTLV-I-associated myelopathy, HAM, TSP, and HAM/TSP' were selected and analysed.
RESULTS
Eighteen papers published in English, Spanish, Portuguese, French and Japanese were identified. Only the central motor conduction time has been analyzed in seropositive patients to human retroviruses. The investigations done on HAM/TSP support the involvement of the pyramidal tract mainly at lower levels, following a centripetal pattern; in AIDS, such an involvement seems to be more prominent at brain levels following a centrifugal pattern.
CONCLUSION
The central motor conduction time abnormalities and involvement differences of the corticospinal tract of patients with AIDS and HAM/TSP dissected here would allow to re-orient early neurorehabilitation measures in these retroviruses-associated neurodegenerative disorders. Besides this, more sophisticated and sensitive non-invasive corticospinal stimulation measures that detect early changes in thalamocortical-basal ganglia circuitry will be needed in both clinically established as well as asymptomatic patients at times when the fastest corticospinal fibers remain uninvolved.
Topics: Evoked Potentials, Motor; HIV Infections; Humans; Paraparesis, Tropical Spastic; Physical Stimulation; Reaction Time
PubMed: 20069238
DOI: 10.1590/s0004-282x2009000600037 -
Neurological Sciences : Official... Feb 2022Mutations in POLR3A are characterized by high phenotypic heterogeneity, with manifestations ranging from severe childhood-onset hypomyelinating leukodystrophic syndromes...
Mutations in POLR3A are characterized by high phenotypic heterogeneity, with manifestations ranging from severe childhood-onset hypomyelinating leukodystrophic syndromes to milder and later-onset gait disorders with central hypomyelination, with or without additional non-neurological signs. Recently, a milder phenotype consisting of late-onset spastic ataxia without hypomyelinating leukodystrophy has been suggested to be specific to the intronic c.1909 + 22G > A mutation in POLR3A. Here, we present 10 patients from 8 unrelated families with POLR3A-related late-onset spastic ataxia, all harboring the c.1909 + 22G > A variant. Most of them showed an ataxic-spastic picture, two a "pure" cerebellar phenotype, and one a "pure" spastic presentation. The non-neurological findings typically associated with POLR3A mutations were absent in all the patients. The main findings on brain MRI were bilateral hyperintensity along the superior cerebellar peduncles on FLAIR sequences, observed in most of the patients, and cerebellar and/or spinal cord atrophy, found in half of the patients. Only one patient exhibited central hypomyelination. The POLR3A mutations present in this cohort were the c.1909 + 22G > A splice site variant found in compound heterozygosity with six additional variants (three missense, two nonsense, one splice) and, in one patient, with a novel large deletion involving exons 14-18. Interestingly, this patient had the most "complex" presentation among those observed in our cohort; it included some neurological and non-neurological features, such as seizures, neurosensory deafness, and lipomas, that have not previously been reported in association with late-onset POLR3A-related disorders, and therefore further expand the phenotype.
Topics: Ataxia; Child; Humans; Mutation; Optic Atrophy; Paraparesis, Spastic; Phenotype; RNA Polymerase III; Spastic Paraplegia, Hereditary; Spinocerebellar Ataxias
PubMed: 34296356
DOI: 10.1007/s10072-021-05462-1 -
Journal of Comparative Pathology Jul 2022Marek's disease (MD) is caused by virulent strains of Gallid alphaherpesvirus type 2 (MD virus serotype 1; MDV 1) and frequently causes a lymphoproliferative disorder in...
Marek's disease (MD) is caused by virulent strains of Gallid alphaherpesvirus type 2 (MD virus serotype 1; MDV 1) and frequently causes a lymphoproliferative disorder in poultry and other galliform birds worldwide. However, within the peafowl (Phasianinae) subfamily, there are only rare confirmed reports of MD. Here we report MD in an Indian peafowl (Pavo cristatus), which clinically presented with hindlimb paraparesis and intraocular swelling of the right eye. Soft, off-white to tan masses within the right eye, sciatic nerves and coelomic cavity were identified at post-mortem examination which effaced the cranial pole of the kidneys and diffusely effaced the testes. Lymphoid neoplasia was identified histologically at all of these sites and there was extensive hepatic lymphoid cell infiltration, which had not been grossly evident. The T-cell origin of the lymphoid cells was confirmed by immunohistochemistry for CD3 antigen. A virulent strain of MDV 1 was detected by real-time polymerase chain reaction in DNA samples extracted from the kidney and testes. As MD is rare in peafowl it should be considered as a differential diagnosis for intraocular and coelomic masses with associated clinical signs.
Topics: Animals; Chickens; Eye Diseases; Herpesvirus 2, Gallid; Marek Disease; Paraparesis; Poultry Diseases
PubMed: 35817540
DOI: 10.1016/j.jcpa.2022.04.003 -
BMJ Case Reports Feb 2019Spinal arachnoid cysts (SAC) are rare in isolation and the exact aetiology is still debated. Primary (congenital) cysts are caused by structural abnormalities in the...
Spinal arachnoid cysts (SAC) are rare in isolation and the exact aetiology is still debated. Primary (congenital) cysts are caused by structural abnormalities in the arachnoid layer and largely affect the thoracic region. Secondary cysts are induced by a multitude of factors, infection, trauma or iatrogenic response, and can affect any level of the spinal cord. While subarachnoid haemorrhage (SAH) is a relatively common condition with significant repercussions, it is extremely uncommonly associated with SAC. When present, it may develop in the months and years after the original bleed, giving rise to new neurological symptoms. Prompt treatment is needed to halt or reverse the worsening of symptoms and questions are still being asked about how best to approach this condition. A 42-year-old man presented with chronic back pain, severe worsening ataxia and numbness below the umbilicus, 7 months after treatment for a World Federation of Neurosurgical Societies grade five (WFNS V) SAH. Imaging revealed a SAC extending from T12 to L4 and causing thecal compression. This was treated with a L3 laminectomy andmarsupialisation. An improvement in neurological function was observed at 6 months. Aetiology of the SAC and its association with SAH are discussed and a review of the relevant literature is provided.
Topics: Adult; Arachnoid Cysts; Back Pain; Humans; Laminectomy; Magnetic Resonance Imaging; Male; Paraparesis; Spinal Cord; Spinal Cord Compression; Spinal Cord Diseases; Subarachnoid Hemorrhage; Treatment Outcome
PubMed: 30819681
DOI: 10.1136/bcr-2018-227666 -
JCI Insight Feb 2021In this study, we examined and characterized disease-specific TCR signatures in cerebrospinal fluid (CSF) of patients with HTLV-1-associated myelopathy/tropical spastic...
In this study, we examined and characterized disease-specific TCR signatures in cerebrospinal fluid (CSF) of patients with HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP). TCR β libraries using unique molecular identifier-based methodologies were sequenced in paired peripheral blood mononuclear cells (PBMCs) and CSF cells from HAM/TSP patients and normal healthy donors (NDs). The sequence analysis demonstrated that TCR β repertoires in CSF of HAM/TSP patients were highly expanded and contained both TCR clonotypes shared with PBMCs and uniquely enriched within the CSF. In addition, we analyzed TCR β repertoires of highly expanded and potentially immunopathologic HTLV-1 Tax11-19-specific CD8+ T cells from PBMCs of HLA-A*0201+ HAM/TSP and identified a conserved motif (PGLAG) in the CDR3 region. Importantly, TCR β clonotypes of expanded clones in HTLV-1 Tax11-19-specific CD8+ T cells were also expanded and enriched in the CSF of the same patient. These results suggest that exploring TCR repertoires of CSF and antigen-specific T cells may provide a TCR repertoire signature in virus-associated neurologic disorders.
Topics: CD8-Positive T-Lymphocytes; Clone Cells; HTLV-I Infections; Human T-lymphotropic virus 1; Humans; Leukocytes, Mononuclear; Nervous System Diseases; Paraparesis, Tropical Spastic; Receptors, Antigen, T-Cell; Receptors, Antigen, T-Cell, alpha-beta
PubMed: 33616082
DOI: 10.1172/jci.insight.144869 -
Rheumatology International Nov 2020Spondyloenchondrodysplasia (SPENCD) is a rare skeletal dysplasia characterized with platyspondyly and metaphyseal lesions of the long bones mimicking enchondromatosis,... (Review)
Review
Spondyloenchondrodysplasia (SPENCD) is a rare skeletal dysplasia characterized with platyspondyly and metaphyseal lesions of the long bones mimicking enchondromatosis, resulting in short stature. SPENCD often coexists with neurologic disorders and immune dysregulation. Spasticity, developmental delay and intracranial calcification are main neurologic abnormalities. Large spectrum of immunologic abnormalities may be seen in SPENCD, including immune deficiencies and autoimmune disorders with autoimmune thrombocytopenia and systemic lupus erythematosus as the most common phenotypes. SPENCD is caused by loss of tartrate-resistant acid phosphatase (TRAP) activity, due to homozygous mutations in ACP5, playing a role in non-nucleic acid-related stimulation/regulation of the type I interferon pathway. We present two siblings, 13-year-old girl and 25-year-old boy with SPENCD, from consanguineous parents. Both patients had short stature, platyspondyly, metaphyseal changes, spastic paraparesis, mild intellectual disability, and juvenile-onset SLE. The age at disease-onset was 2 years for girl and 19 years for boy. Both had skin and mucosa involvement. The age at diagnosis of SLE was 4 years for girl, and 19 years for boy. The clinical diagnosis of SPENCD was confirmed by sequencing of ACP5 gene, which revealed a homozygous c.155A > C (p.K52T), a variant reported before as pathogenic. Juvenile-onset SLE accounts for about 15-20% of all SLE cases. But, the onset of SLE before 5-years of age and also monogenic SLE are rare. Our case report and the literature review show the importance of multisystemic evaluation in the diagnosis of SPENCD and to remind the necessity of investigating the monogenic etiology in early-onset and familial SLE cases.
Topics: Adolescent; Adult; Age of Onset; Antirheumatic Agents; Autoimmune Diseases; Brain Diseases; Calcinosis; Female; Humans; Immunologic Deficiency Syndromes; Intellectual Disability; Lupus Erythematosus, Systemic; Male; Osteochondrodysplasias; Paraparesis, Spastic; Siblings; Tartrate-Resistant Acid Phosphatase
PubMed: 32691099
DOI: 10.1007/s00296-020-04653-x -
Journal of the American Veterinary... May 2018
Topics: Animals; Diagnosis, Differential; Dog Diseases; Dogs; Male; Neurologic Examination; Paraparesis; Tick Paralysis
PubMed: 29701525
DOI: 10.2460/javma.252.10.1211