Significados de spastic paraplegia em inglês

Plasma biomarkers are needed to guide the genetic testing of spastic paraplegia.

Six of the nineteen patients continued to have spastic paraplegia and were wheelchair-dependent.

Hereditary spastic paraplegia is a spastic gait disorder that arises from degeneration of corticospinal axons.

Autosomal dominant hereditary spastic paraplegia is genetically heterogeneous, with at least five loci identified by linkage analysis.

Understanding the cellular functions of spatacsin will allow deciphering mechanisms of motor cortex dysfunction in autosomal-recessive hereditary spastic paraplegia.

Here we report a 12 year old male with an extreme presentation of spastic paraplegia along with autism and dysmorphisms.

Therefore, MAG variants should be considered in the diagnosis of hereditary cerebellar ataxia with oculomotor apraxia, in addition to spastic paraplegia.

Cerebral MRI and the familial history of each patient with spastic paraplegia are the minimal clinical elements needed to orient genetic testing.

KIF1A dysfunction has been associated with several Mendelian disorders with a spectrum of overlapping phenotypes, ranging from spastic paraplegia to intellectual disability.

Mutations in the L1CAM gene cause a highly variable neurological disease described as X-linked hydrocephalus, MASA syndrome or spastic paraplegia type I.

It thus adds DYNC1H1 to the growing list of spastic paraplegia related genes in microtubule-dependent motor protein pathways.

Unexpectedly, the genes responsible for Friedreich's ataxia and a form of autosomal recessive spastic paraplegia place these diseases in the category of mitochondrial disorders.

SPG13, an autosomal dominant form of pure hereditary spastic paraplegia, was recently mapped to chromosome 2q24-34 in a French family.

Recently, mutations in spastin were identified in SPG4, the most common locus for dominant hereditary spastic paraplegia that was previously mapped to chromosome 2p22.

Genetically, more than 70 different forms of spastic paraplegias have been characterized.

Purpose of review: Hereditary spastic paraplegias are a genetically heterogeneous group of diseases.