Hereditary spastic paraplegias (HSP) constitute a rare and highly heterogeneous group of neurodegenerative disorders, defined clinically by progressive lower limb spasticity and pyramidal weakness. Autosomal recessive HSP as well as sporadic cases present a significant diagnostic challenge. Mutations in AP5Z1, a gene playing a role in intracellular membrane trafficking, have been recently repor...

Hereditary spastic paraplegias (HSPs) are a group of heterogeneous neurodegenerative disorders, which are often presented with overlapping phenotypes such as progressive paraparesis and spasticity. To assist the diagnosis of HSP subtypes, next-generation sequencing is often used to provide supporting evidence. In this study, we report the case of two probands from the same family with HSP sympt...

Involvement of the upper extremity in cerebral palsy often results in a typical pattern of spasticity, with elbow flexion, forearm pronation, ulnar deviation and flexion of the wrist, and adduction-flexion posture of the thumb. Although only a relatively small subset of cerebral palsy patients are candidates for surgery, properly selected patients and procedures yield a reasonable improvement. ...

BACKGROUND Extracorporeal shock wave therapy has been reported to be effective in reducing muscle hypertonia in adults. AIM To evaluate the effect of shock wave treatment of spastic muscles in children with cerebral palsy. METHODS Twelve children with spastic equinus foot (6 boys,6 girls; mean age 8 years (standard deviation (SD) 2.31)) were monitored. Clinical (Ashworth Scale, passive rang...

Introduction. Cancer, after cardiovascular disease, is the second most common cause of death both in Poland anIntroduction. In children with cerebral palsy, gait and balance assessment allows for an objective gait pattern evaluation as well as for therapy planning and assessment. It was hypothesised that asymmetry of the lower limbs load in a standing position causes asymmetry of spatiotemporal...

BACKGROUND Paraneoplastic neurologic syndromes (PNS) pose quite an uncommon neurological complication, affecting less than 1% of patients with breast cancer. Nearly one third of these patients lack detectable onconeural antibodies (ONAs), and improvement in neurologic deficits with concomitant cancer treatments is achieved in less than 30% of cases. CASE PRESENTATION A 42-year-old, premenopau...

Hereditary spastic paraplegia (HSP) is a group of genetically heterogeneous neurodegenerative disorders characterized by slowly progressive spasticity and weakness of the lower limbs. HSP is caused by failure of development or selective degeneration of the corticospinal tracts, which contain the longest axons in humans. The most common form of HSP is caused by mutations of the spastin gene (SPA...

Case presentation: Patient was the first child of non-consanguineous parents whose father healthy, but mother had mild intellectual deficiency and spastic paraparethic gait that been attributed to cerebral palsy. At birth he presented congenital talipes equinovarus. He began crawl at 1yo never able walk independently despite orthopedic feet correction. 1yo, leukocoria in left eye noticed. Bilat...

background and purpose: speech intelligibility refers to how speech is understandable by listeners.  this study examined speech intelligibility in children (persian native speakers) with spastic cerebral palsy aged 8-12 years old. materials and methods: a cross-sectional study was performed in 31dysarthric students (….. boys and …..girls)  in tehran, 2014. a list of words and sentences were pre...