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PloS One 2016Spastic gait is a key feature in patients with hereditary spastic paraparesis, but the gait characterization and the relationship between the gait impairment and...
BACKGROUND
Spastic gait is a key feature in patients with hereditary spastic paraparesis, but the gait characterization and the relationship between the gait impairment and clinical characteristics have not been investigated.
OBJECTIVES
To describe the gait patterns in hereditary spastic paraparesis and to identify subgroups of patients according to specific kinematic features of walking.
METHODS
We evaluated fifty patients by computerized gait analysis and compared them to healthy participants. We computed time-distance parameters of walking and the range of angular motion at hip, knee, and ankle joints, and at the trunk and pelvis. Lower limb joint moments and muscle co-activation values were also evaluated.
RESULTS
We identified three distinct subgroups of patients based on the range of motion values. Subgroup one was characterized by reduced hip, knee, and ankle joint range of motion. These patients were the most severely affected from a clinical standpoint, had the highest spasticity, and walked at the slowest speed. Subgroup three was characterized by an increased hip joint range of motion, but knee and ankle joint range of motion values close to control values. These patients were the most mildly affected and had the highest walking speed. Finally, subgroup two showed reduced knee and ankle joint range of motion, and hip range of motion values close to control values. Disease severity and gait speed in subgroup two were between those of subgroups one and three.
CONCLUSIONS
We identified three distinctive gait patterns in patients with hereditary spastic paraparesis that correlated robustly with clinical data. Distinguishing specific features in the gait patterns of these patients may help tailor pharmacological and rehabilitative treatments and may help evaluate therapeutic effects over time.
Topics: Adult; Ankle Joint; Biomechanical Phenomena; Electromyography; Female; Gait; Gait Disorders, Neurologic; Hip Joint; Humans; Knee Joint; Male; Middle Aged; Muscle Spasticity; Muscle, Skeletal; Paraparesis, Spastic; Range of Motion, Articular; Walking
PubMed: 27732632
DOI: 10.1371/journal.pone.0164623 -
Revista Da Sociedade Brasileira de... Oct 2012The human T lymphotropic virus type-1 (HTLV-1) was the first human retrovirus identified. The virus is transmitted through sexual intercourse, blood transfusion, sharing... (Review)
Review
The human T lymphotropic virus type-1 (HTLV-1) was the first human retrovirus identified. The virus is transmitted through sexual intercourse, blood transfusion, sharing of contaminated needles or syringes and from mother to child, mainly through breastfeeding. In addition to the well-known association between HTLV-1 and HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP), several diseases and neurologic manifestations have been associated with the virus. This review was conducted through a PubMed search of the terms HTLV-1, immune response and neurological diseases. Emphasis was given to the most recent data regarding pathogenesis and clinical manifestations of HTLV-1 infection. The aim of the review is to analyze the immune response and the variety of neurological manifestations associated to HTLV-1 infection. A total of 102 articles were reviewed. The literature shows that a large percentage of HTLV-1 infected individuals have others neurological symptoms than HAM/TSP. Increased understanding of these numerous others clinical manifestations associated to the virus than adult T cell leukemia/lymphoma (ATLL) and HAM/TSP has challenged the view that HTLV-1 is a low morbidity infection.
Topics: HTLV-I Infections; Human T-lymphotropic virus 1; Humans; Paraparesis, Tropical Spastic
PubMed: 23152334
DOI: 10.1590/s0037-86822012000500002 -
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 -
Women's Health (London, England) 2022Vertebral haemangioma is a benign vascular tumour mostly seen in the thoracic region of the spine. Spinal haemangiomas are usually asymptomatic and are discovered...
Vertebral haemangioma is a benign vascular tumour mostly seen in the thoracic region of the spine. Spinal haemangiomas are usually asymptomatic and are discovered incidentally. In a few patients, however, aggressive vertebral haemangiomas can cause local pain, radicular pain or neurologic deficits, which result from neural compression. The aetiology of the origin is unclear and is probably multifactorial. Hormonal and biological changes in pregnant women can lead to accelerated vascular growth of haemangioma. In our report, we present the case of a pregnant patient who was diagnosed with an aggressive vertebral haemangioma that further led to progressive paraparesis. We had to take the fact that she was pregnant into account in the diagnostic procedure, in the choice of examination method and also in the method of therapy. The goal of this case report is threefold: (1) provide an overview of the possible methods of management, specifically imaging, which will aid in diagnosis and based on that, (2) determining the appropriate therapy and (3) review the risks and benefits of each will be presented when choosing individual approaches.
Topics: Female; Hemangioma; Humans; Pain; Paraparesis; Pregnancy; Pregnant Women; Spinal Neoplasms; Treatment Outcome
PubMed: 35574823
DOI: 10.1177/17455057221099018 -
International Journal of... 2022Intramedullary tuberculoma (IMT) is considered to be a rare form of spinal tuberculosis (TB). Overall, TB of the central nervous system accounts for approximately 1% of...
Intramedullary tuberculoma (IMT) is considered to be a rare form of spinal tuberculosis (TB). Overall, TB of the central nervous system accounts for approximately 1% of all cases of TB and 50% of these involve the spine. The clinical presentation of spinal intramedullary TB is similar to an intramedullary spinal cord tumor mass. The factors attributable could be malnutrition, poor socioeconomic conditions, and immunodeficiency syndromes. As per the reports, the incidence of primary intramedullary TB is 2 in 100,000 cases among patients with TB. We describe one such patient who presented with progressive asymmetrical paraparesis due to histologically confirmed intraspinal tuberculoma. Paraparesis in spinal IMT is considered to be rare. Hereby, we present the case of a 29-year-old female who presented with asymmetric onset paraparesis of 6 months with associated numbness and tingling began in the left foot 3 months which was ascending in nature. There was no history of stiffness, involuntary movements, flexor spasms, thinning, or fasciculations of muscles. There was a loss of sensation pain, touch, and temperature below L3 with normal reflexes. Power in both the lower limbs was 1/5 as per Medical Research Council (MRC) grading. She underwent a contrast magnetic resonance imaging spine which was suggestive of an intramedullary SOL at D12 vertebral level. The patient underwent surgical intervention with resection of the SOL. Histopathology was confirmed to be an IMT. She was started on Category 1 (antitubercular drugs) and further investigated for primary source, which was found to be negative. We want to emphasize that TB can involve any part of the body. It should be kept as a differential diagnosis of any chronic inflammatory lesion involving the bony skeleton, especially in endemic countries where combined surgical and medical treatment is usually sufficient to provide a cure.
Topics: Adult; Antitubercular Agents; Female; Humans; Magnetic Resonance Imaging; Paraparesis; Tuberculoma; Tuberculosis, Spinal
PubMed: 35775557
DOI: 10.4103/ijmy.ijmy_39_22 -
Neurology Apr 2020To identify the etiology of an outbreak of spastic paraparesis among women and children in the Western Province of Zambia suspected to be konzo.
OBJECTIVE
To identify the etiology of an outbreak of spastic paraparesis among women and children in the Western Province of Zambia suspected to be konzo.
METHODS
We conducted an outbreak investigation of individuals from Mongu District, Western Province, Zambia, who previously developed lower extremity weakness. Cases were classified with the World Health Organization definition of konzo. Active case finding was conducted through door-to-door evaluation in affected villages and sensitization at local health clinics. Demographic, medical, and dietary history was used to identify common exposures in all cases. Urine and blood specimens were taken to evaluate for konzo and alternative etiologies.
RESULTS
We identified 32 cases of konzo exclusively affecting children 6 to 14 years of age and predominantly females >14 years of age. Fourteen of 15 (93%) cases ≥15 years of age were female, 11 (73%) of whom were breastfeeding at the time of symptom onset. Cassava was the most commonly consumed food (median [range] 14 [4-21] times per week), while protein-rich foods were consumed <1 time per week for all cases. Of the 30 patients providing urine specimens, median thiocyanate level was 281 (interquartile range 149-522) μmol/L, and 73% of urine samples had thiocyanate levels >136 μmol/L, the 95th percentile of the US population in 2013 to 2014.
CONCLUSION
This investigation revealed the first documented cases of konzo in Zambia, occurring in poor communities with diets high in cassava and low in protein, consistent with previous descriptions from neighboring countries.
Topics: Adolescent; Age Factors; Breast Feeding; Child; Cyanides; Diet; Disease Outbreaks; Female; Humans; Male; Manihot; Muscle Weakness; Paraparesis, Spastic; Protein Deficiency; Rain; Seasons; Thiocyanates; Young Adult; Zambia
PubMed: 32127386
DOI: 10.1212/WNL.0000000000009017 -
Neurotherapeutics : the Journal of the... Oct 2015Considering that there is no effective treatment for human T-cell leukemia virus type 1 (HTLV-1)-associated myelopathy/tropical spastic paraparesis, this study aimed to...
Triple Therapy with Prednisolone, Pegylated Interferon and Sodium Valproate Improves Clinical Outcome and Reduces Human T-Cell Leukemia Virus Type 1 (HTLV-1) Proviral Load, Tax and HBZ mRNA Expression in Patients with HTLV-1-Associated Myelopathy/Tropical Spastic Paraparesis.
Considering that there is no effective treatment for human T-cell leukemia virus type 1 (HTLV-1)-associated myelopathy/tropical spastic paraparesis, this study aimed to assess the impact of triple combination therapy-interferon-α, valproic acid, and prednisolone-on clinical outcomes, main HTLV-1 viral factors, and host anti-HTLV-1 antibody response. HTLV-1 proviral load (PVL), and HBZ and Tax mRNA expression levels were measured in peripheral blood mononuclear cells of 13 patients with HTLV-1-associated myelopathy/tropical spastic paraparesis before and after treatment with 180 μg pegylated interferon once a week, 10-20 mg/kg/day sodium valproate, and 5 mg/day prednisolone for 25 weeks using a TaqMan real-time polymerase chain reaction assay. Furthermore, anti-HTLV-1 titer, Osame Motor Disability Score, Ashworth spasticity scale, and urinary symptoms (through standard questionnaire and clinical monitoring) were assessed in patients before and after the treatment. HTLV-1 PVL and HBZ expression significantly decreased after the treatment [PVL from 1443 ± 282 to 660 ± 137 copies/10(4) peripheral blood mononuclear cells (p = 0.01); and HBZ from 8.0 ± 1.5 to 3.0 ± 0.66 (p < 0.01)]. Tax mRNA expression decreased after the treatment from 2.26 ± 0.45 to 1.44 ± 0.64, but this reduction was not statistically significant (p = 0.10). Furthermore, anti-HTLV-1 titer reduced dramatically after the treatment, from 3123 ± 395 to 815 ± 239 (p < 0.01). Clinical signs and symptoms, according to Osame Motor Disability Score and Ashworth score, improved significantly (both p < 0.01). Urinary symptoms and sensory disturbances with lower back pain were reduced, though not to a statistically significant degree. Although signs and symptoms of spasticity were improved, frequent urination and urinary incontinence were not significantly affected by the triple therapy. The results provide new insight into the complicated conditions underlying HTLV-1-associated diseases.
Topics: Adult; Anti-Inflammatory Agents; Basic-Leucine Zipper Transcription Factors; Cross-Sectional Studies; Disability Evaluation; Female; Gene Expression Regulation, Viral; Gene Products, tax; Humans; Interferons; Leukocytes, Mononuclear; Male; Middle Aged; Paraparesis, Tropical Spastic; Prednisolone; RNA, Messenger; Retroviridae Proteins; Vanadates; Young Adult
PubMed: 26174324
DOI: 10.1007/s13311-015-0369-3 -
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 -
Journal of the American Veterinary... Oct 2017
Topics: Animals; Diagnosis, Differential; Dog Diseases; Dogs; Histiocytic Sarcoma; Lumbar Vertebrae; Magnetic Resonance Imaging; Male; Neurologic Examination; Paraparesis; Spinal Cord Neoplasms
PubMed: 28959925
DOI: 10.2460/javma.251.8.897 -
Medicine Dec 2018The mechanisms of action of MTX (methotrexate) in the treatment of RA (rheumatoid arthritis) and PsA (psoriatic arthritis) is related to its antifolic activity, due to...
Complete clinical and functional recovery following low-dose methotrexate related paraparesis in a patient with compound c.1298A>C AND c.677C>T MTHFR polymorphism: A case report.
RATIONALE
The mechanisms of action of MTX (methotrexate) in the treatment of RA (rheumatoid arthritis) and PsA (psoriatic arthritis) is related to its antifolic activity, due to the high affinity for enzymes that require folate cofactors as dihydrofolate reductase and to the anti-inflammatory activity derivated from the inhibition of thymidylate synthetase that leads to the over-production of adenosine.
PATIENT CONCERNS
Our patient was a 41-year-old female, affected by PsA in treatment since 2 years with low-dose methylprednisolone and low-dose subcutaneous MTX. The treatment was effective. The patient subacutely developed a severe paraparesis with impossibility of gait or standing without aid and was admitted to a Neurology Department where the cause of the paraparesis was not clear in spite of accurate radiological neurophysiologic and laboratory tests. Therefore, she was admitted in a rehabilitation unit.
DIAGNOSIS AND INTERVENTIONS
Paraparesis in PsA patient in treatment with methotrexate. MTX toxicity was hypothesized; therefore the drug was discontinued while i.m. folic acid and cyanocobalamin were administered for 20 days. The diagnosis was clinical, based on neurological examination (paraparesis) and on the chronic use of MTX (hypothesis of toxicity).
OUTCOMES
The patient obtained a complete resolution of paraparesis. Genetic analyses showed associated a compound heterozygosity for the c.1298A>C and c.677C>T variants of methylenetetrahydrofolate reductase (MTHFR) gene.
LESSONS
Neurological side effects of MTX are uncommon. In literature no previous case of MTX induced paraparesis in patients treated with low-dose MTX for chronic arthritis has been described. The association between the gene polymorphisms of MTHFR (c.1298A>C and c.677C>T) and MTX toxicity in arthritis patients is confirmed. The case also confirms that folates are a precious antidote of MTX toxicity.
Topics: Adult; Antirheumatic Agents; Arthritis, Psoriatic; Diagnosis, Differential; Female; Humans; Methotrexate; Methylenetetrahydrofolate Reductase (NADPH2); Paraparesis; Polymorphism, Genetic
PubMed: 30544400
DOI: 10.1097/MD.0000000000013350