نتایج جستجو برای: spastic paraplegia 18
تعداد نتایج: 361983 فیلتر نتایج به سال:
OBJECTIVE To assess the mutational and clinical spectrum of spatacsin associated with autosomal recessive hereditary spastic paraplegia (ARHSP) with thin corpus callosum (TCC). METHODS A retrospective study was carried out at King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia from February 2008 until March 2011. Four unrelated Saudi Arabian families with ARHSP-TCC were ...
Cervical somatosensory evoked potentials elicited by median nerve stimulation were recorded from 18 cases of hereditary spastic paraplegia. Motor and sensory nerve conduction in the median nerve was normal in each. In one third of the patients no spinal evoked potential was detectable. In the remainder the amplitude of the evoked potential was reduced in comparison with a control series; the la...
Previous reports have shown the association between familial spastic paraplegia and hypopigmentation of the skin. A family is reported in which three siblings presented with progressive spastic paraparesis and cerebellar ataxia. All the siblings had large hyperpigmented naevi of the lower extremities while none of the unaffected members had a skin lesion. A definite association appears to exist...
The clinical features of 21 patients (7 men and 14 women, aged 24-65) with human T-lymphotropic virus type I (HTLV-I) associated myelopathy (HAM) in Nagasaki were reviewed. Gait disturbance with spastic paraplegia and bladder dysfunction were the main clinical symptoms. Gait disturbance was observed in all patients and bladder dysfunction was found in 20/21 (95.2%). Mild sensory disturbance was...
BACKGROUND Hereditary spastic paraplegia (HSP) is a genetically heterogeneous neurodegenerative disease. The most frequent cause of autosomal dominant HSP is mutation of SPAST (SPG4 locus), but additional pedigrees remain mutation negative by conventional screening despite linkage to SPG4. OBJECTIVE To determine the frequency of genomic copy number aberrations of SPAST in autosomal dominant H...
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...
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