نتایج جستجو برای: hereditary spastic paraplegia
تعداد نتایج: 94252 فیلتر نتایج به سال:
The hereditary spastic paraplegias are a heterogeneous group of degenerative disorders that are clinically classified as either pure with predominant lower limb spasticity, or complex where spastic paraplegia is complicated with additional neurological features, and are inherited in autosomal dominant, autosomal recessive or X-linked patterns. Genetic defects have been identified in over 40 dif...
spastic paraplegia 18 is an autosomal recessive disorder characterized by motor dysfunction, joint contracture and mental retardation. we describe two families as three cases. case 1 is a 35-year-old woman with and spasticity and mild weakness in lower limbs. case 2 and 3 are a sister and brother aged six and two respectively. the older sister suffered from lower limb spasticity, equinovarus an...
PCR amplification and sequencing of whole blood DNA from an individual with hereditary spastic paraplegia, as well as family members, revealed a fragment of proteolipid protein 1 (PLP1) gene exon 1, which excluded the possibility of isomer 1 expression for this family. The fragment sequence of exon 3 and exon 5 was consistent with the proteolipid protein 1 sequence at NCBI. In the proband sampl...
We report a family with an undiagnosed X linked condition. The grandmother, two of her three daughters, and one of her grand-daughters have a slowly progressive proximal weakness, brisk reflexes, poor bladder function, static reduced night vision, and IgG2 deficiency. The diagnosis of the three living symptomatic females was "hereditary spastic paraplegia plus". They have lost five male childre...
Central motor conduction (CMC) studies were carried out in 25 patients with hereditary spastic paraplegia (HSP). Responses evoked in the lower limbs by transcranial magnetic stimulation of the motor cortex were bilaterally absent in 33% of the patients and, when recordable, were delayed in 75% of cases. Responses in the upper limbs were mostly normal except for those from the five members of on...
Case presentation: Girl, 5 years old, she had not gestational and neonatal complications her parents is consanguineous. She neuropsychomotor developmental delay (NDD) dysphagia for solids at 6 months. At 2 cognitive impairment, motor with axial ataxia, appendicular hypotonia dysmetria. Her symptoms progressively worsening associated pyramidal signs. Cerebellar atrophy increased arachnoid space ...
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