Familial spastic paresis with strabismus
نویسندگان
چکیده
منابع مشابه
Familial spastic paraplegia with Kallmann's syndrome.
A sibship is reported in which two males have spastic paraparesis and Kallmann's syndrome (hypogonadotrophic hypogonadism and anosmia). One of the brothers also is color blind. The association of familial spastic paraplegia and Kallmann's syndrome has not been described previously.
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Leg muscle EMG responses evoked by short treadmill acceleration impulses applied during stance were analysed in patients with spastic hemiparesis. The compensatory reactions on the unaffected side consisted of a diphasic pattern of leg muscle activation. The first response could best be described as a polysynaptic spinal stretch reflex response. This response was absent on the spastic side, exc...
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Troyer syndrome (MIM#275900) is an autosomal recessive form of complicated hereditary spastic paraplegia. It is characterized by progressive lower extremity spasticity and weakness, dysarthria, distal amyotrophy, developmental delay, short stature, and subtle skeletal abnormalities. It is caused by deleterious mutations in the SPG20 gene, encoding spartin, on Chromosome 13q13. Until now, six un...
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4 Familial spastic paraplegia is not a common condition ; it is believed to be a genetically determined neurological disorder, although its exact mode of inheritance and its relationship to other disorders of the nervous system are still in dispute. The usual manifestations of familial spastic paraplegia are stiffness and weakness in the lower limbs leading to difficulty in walking, the usual c...
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Familial spastic paraplegia (FSP) is a heterogeneous group of disorders characterized primarily by progressive lower limb spasticity and weakness. More than 50 disease loci have been described with different modes of inheritance. In this study, we identified a novel missense mutation (c.803G>A, p.R268Q) in the plasma membrane calcium ATPase (PMCA4, or ATP2B4) gene in a Chinese family with autos...
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ژورنال
عنوان ژورنال: Archives of Disease in Childhood
سال: 1944
ISSN: 0003-9888,1468-2044
DOI: 10.1136/adc.19.97.32