No abstract available.
Spastic Paraplegia, Hereditary

No abstract available.
Spastic Paraplegia, Hereditary

No abstract available.
Humans ; Spastic Paraplegia, Hereditary*

No abstract available.
Humans ; Spastic Paraplegia, Hereditary*

Hereditary spastic paraplegia is a familial disorder which is inherited by autosomal dominant, autosomal recessive or sex linked pattern. We experienced a family who has hereditary spastic paraplegia with mental retardation and extrapyramidal symptom that is thought inherited by autosomal dominant inheritance pattern. A review of literatures was made briefly.
Humans ; Inheritance Patterns ; Intellectual Disability ; Spastic Paraplegia, Hereditary*

Hereditary spastic paraplegia is a familial disorder which is inherited by autosomal dominant, autosomal recessive or sex linked pattern. We experienced a family who has hereditary spastic paraplegia with mental retardation and extrapyramidal symptom that is thought inherited by autosomal dominant inheritance pattern. A review of literatures was made briefly.
Humans ; Inheritance Patterns ; Intellectual Disability ; Spastic Paraplegia, Hereditary*

Child ; Child, Preschool ; Humans ; Male ; Spastic Paraplegia, Hereditary ; genetics

The hereditary spastic paraplegias (HSPs) are a large group of inherited, heterogeneous neurological disorders. All modes of inheritance have been reported. SPG11-associated HSP is supposed to be the most common type of complicated autosomal recessive HSP (ARHSP), especially for patients with thin corpus callosum and intelligence disorder. Here we review the mapping and cloning of the SPG11 gene, the clinical features and the supposed pathogenic mechanisms of SPG11 gene abnormalities.
Humans ; Pedigree ; Proteins ; genetics ; Spastic Paraplegia, Hereditary ; genetics

No abstract available.
Asian Continental Ancestry Group ; Humans ; Spastic Paraplegia, Hereditary

OBJECTIVE: To determine the value of diffusion weighted imaging (DWI) in the diagnosis of hereditary spinocerebellar ataxia 3 and the Machado Joseph disease (SCA3/MJD) and hereditary spastic paraplegia 4 (SPG4). METHODS: We scanned 13 patients with SPG4, 30 patients with SCA3/MJD (21 onset patients and 9 with only genetic abnormalities), and 27 healthy volunteers with DWI. The processing data were apparent diffusion coefficient (ADC). The above data were grouped for comparative study. RESULTS: In the precentral gyrus, posterior limb of the internal capsule, cerebral peduncle, pons, cerebellar cortex and cerebellar white matter, the ADC of onset SCA3/MJD patients increased compared with the control group. The ADC of non-onset SCA3/MJD patients increased only in the cerebellar dentate nucleus compared with the control group. In the cerebellar cortex, the ADC of onset SCA3/MJD patients was significantly higher than the non-onset SCA3/MJD. The ADC of onset SCA3/MJD patients was significantly higher in the posterior limb of the internal capsule, cerebellar cortex, cerebellar white matter and pons than that of SPG4 patients. In the precentral gyrus, the ADC of SPG4 was significantly higher than control. CONCLUSION DWI is useful in the diagnosis of SCA3/MJD and SPG4.
Diffusion Magnetic Resonance Imaging ; Humans ; Machado-Joseph Disease ; diagnosis ; Paraplegia ; diagnosis ; Spastic Paraplegia, Hereditary ; diagnosis