5,10-methenyltetrahydrofolate synthetase (MTHFS) deficiency is a folate metabolism disorder known as rare autosomal recessive neurodevelopmental (MIM: #618367). With central nervous system involvements, it mainly characterized by developmental delay, epilepsy, microcephaly, hypertonia, and cranial nerves involvement. Here, we report three new cases with MTHFS from two non-consanguineous Chinese...

objectives: there are some controversies about the value of modified ashworth scale (mas) for assessing spasticity. the goal of this study was to investigate if there is any correlation between scores obtained from mas for wrist spasticity and electrophysiological recordings as the objective measure of spasticity. methods: in this cross-sectional study, 34 stroke patients were employed. wrist s...

PRESENTATION A 76-year-old woman, complaining of leg pain and unsteady gait for 3 years, presented with a spastic paraparetic gait, severe spasticity and touch, thermal and pain sensory loss limited to arms, lower thorax and upper abdomen. Brain and spinal cord magnetic resonance imaging showed a large loculated syrinx. Cerebellar tonsillar herniation into the foramen magnum was also seen (Arno...

[Purpose] The purpose of this meta-analysis was to assess the effects of extracorporeal shock wave therapy (ESWT) on reducing spasticity immediately and 4 weeks after application of ESWT. [Subjects and Methods] We searched PubMed, TCL, Embase, and Scopus from their inception dates through June 2013. The key words "muscle hypertonia OR spasticity" were used for spasticity, and the key words "sho...

Delayed neurological deterioration after hypoxia is uncommon. Here we report a case of reversible delayed leukoencephalopathy following intravenous heroin intoxication with hypoxia. A 42-year-old man presented disturbed consciousness and unstable hemodynamic status after intravenous heroin injection. He made a good initial recovery after infection control and hemodynamic support. But his neurol...

This study describes an occurrence of pink morning glory (Ipomoea carnea) intoxication in goats in northern Argentina. The clinical signs displayed by the affected animals were ataxia, lethargy, emaciation, hypertonia of the neck muscles, spastic paresis in the hind legs, abnormal postural reactions and death. The clinico-pathologic examination revealed that the affected animals were anemic and...

According to the established clinical tradition about the distribution of weakness, the ratios of flexor/extensor strength of patients with upper motor neuron lesions are expected to be relatively high for the elbow and wrist and low for the knee. To assess the diagnostic value of these patterns of weakness, muscle strength of 70 patients with limb weakness of central or peripheral origin was m...

OBJECTIVE ATAD1 encodes Thorase, a mediator of α-amino-3-hydroxy-5-methylisoxazole-4-proprionate (AMPA) receptor recycling; in this work, we characterized the phenotype resulting from ATAD1 mutations and developed a targeted therapy in both mice and humans. METHODS Using exome sequencing, we identified a novel ATAD1 mutation (p.E276X) as the etiology of a devastating neurologic disorder chara...

Two cases of growth failure, microcephaly, facial dysmorphism, muscular hypertonia, and severe psychomotor retardation are described. At birth, both cases had cytogenetic mosaicism in lymphocytes and skin fibroblasts, in case 1 ring chromosome 21 and monosomy 21 and in case 2, deletion of chromosome 21 and monosomy 21. At a later age the lymphocyte karyotype changed almost completely to 46,XX, ...