[PDF] Top 20 Clinical and genetic study of hereditary spastic paraplegia in Canada
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Clinical and genetic study of hereditary spastic paraplegia in Canada
... between genetic diagnoses and out- comes of interest including age at onset, disease duration, abnormal bladder function, swallowing difficulties, HSP-related symptoms, learning disabilities, speech delay, ... See full document
10
Corticospinal tract damage in HHH syndrome: a metabolic cause of hereditary spastic paraplegia
... This study reports on the longitudinal description of neurological, neurophysiological and neuroradiological patterns in HHH ...of spastic paraplegia detectable in one third of the ...Other ... See full document
9
“Ears of the Lynx” MRI Sign Is Associated with SPG11 and SPG15 Hereditary Spastic Paraplegia
... All procedures were approved by the Human Studies Committees of the institutions involved, including the National Institutes of Health Office of Human Subjects Research for the healthy con- trols and patients with MS. In ... See full document
5
Original Article SPG3A gene polymorphisms in hereditary spastic paraplegia
... This study aimed to analyze the hereditary spastic paraplegia (HSP)/spastic paraplegia 3A (Sp- G3A) genomic structure as well as the polymorphisms in SPG3G genomic structure by ... See full document
5
The prevalence of cognitive dysfunction in the estonian population of the hereditary spastic paraplegia
... in genetic studies, have been ...one study of 19 families with 41 SPAST-positive ...another study, carriers of the pathogenic SPAST mutations were not demented but had a subclinical cognitive ... See full document
7
Chinese families with autosomal recessive hereditary spastic paraplegia caused by mutations in SPG11
... previous study enrolled 148 patients with a clinical diagnosis of sporadic ALS, found one ALS pa- tient carried the variation ...especially spastic gait with leg stiffness, and muscle weakness of ... See full document
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MR Imaging Findings in Autosomal Recessive Hereditary Spastic Paraplegia
... The differential diagnosis of HSP includes structural spinal cord ab- normalities, degenerative diseases such as amyotrophic lateral sclero- sis, leukodystrophies, and metabolic and infectious disorders. Work- up, ... See full document
5
Child Neurology: Hereditary spastic paraplegia in children
... on hereditary spastic paraplegia (HSP) is dominated by descriptions of adult case series, there is less emphasis on the genetic evaluation in suspected pediatric cases of ...progressive ... See full document
6
Clinical spectrum and genetic landscape for hereditary spastic paraplegias in China
... present study, we firstly investigated the causa- tive genes in 99 both ADHSP and ARHSP families in our cohort using the targeted next generation sequen- cing (NGS) or multiplex ligation-dependent probe amp- ... See full document
14
ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia
... and Clinical Neuroscience, Parkinsonism and Related Disorders, Brain, Neurodegenerative Diseases, The Cerebellum, and Neurogenetics; and has received research support from the French Research Agency, France ... See full document
10
Intramuscular viral delivery of paraplegin rescues peripheral axonopathy in a model of hereditary spastic paraplegia
... human clinical trials ...successful study has used AAV2/2 vectors to deliver IGF-1 in a mouse model of ALS, showing a signifi- cant prolongation of survival after treatment ... See full document
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Clinical features and genetic spectrum in Chinese patients with recessive hereditary spastic paraplegia
... Twenty-four unrelated patients with clinically suspected HSP including 4 out of 6 AR-HSP and 4 out of 6 spor- adic patients without pathogenic mutations reported previously [15] and 24 family members were consecu- tively ... See full document
13
High frequency of SPG4 in Taiwanese families with autosomal dominant hereditary spastic paraplegia
... a study of HSP cohort in Sardinia, Italy showed that SPG4 was responsible for all of nine AD-HSP fam- ilies receiving genetic test ...this study due to ascertainment bias is unlikely in view of the ... See full document
7
Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia
... In conclusion, we reported the mutational spectrum of the SPAST and ATL1 genes in a large cohort of Spanish patients with spastic paraplegia. We found a mutation in 15% of the cases, and a frequency of ... See full document
9
Two novel homozygous mutations of CAPN1 in Chinese patients with hereditary spastic paraplegia and literatures review
... Hereditary spastic paraplegias (HSP) present great genetic and clinical heterogeneity, mainly manifesting as spasticity and weakness in the lower limbs ... See full document
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A hereditary spastic paraplegia mutation in kinesin-1A/KIF5A disrupts neurofilament transport
... present study, and also to measure the forces acting on the moving filaments, which is cur- rently not possible because neurofilaments are too small to be optically ... See full document
13
Electrophysiological characterisation of motor and sensory tracts in patients with hereditary spastic paraplegia (HSP)
... HSP: Hereditary spastic paraplegia; MEP: Motor evoked potential; ms: Millisecond; NCS: Nerve conduction study; NCV: Nerve conduction velocity; PMCT: Peripheral motor conduction time; SNAP: ... See full document
9
Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia
... 19. Kaminsky EB, Kaul V, Paschall J, Church DM, Bunke B, Kunig D, Moreno-De-Luca D, Moreno-De-Luca A, Mulle JG, Warren ST, Richard G, Compton JG, Fuller AE, Gliem TJ, Huang S, Collinson MN, Beal SJ, Ackley T, Pickering ... See full document
7
Motor impairment in a rare form of spastic paraplegia (Spoan syndrome): a 10-year follow-up
... were detected, as in other studies on rare genetic dis- eases [16, 17]. Therefore, Spoan syndrome is different from conditions such as Duchenne muscular dys- trophy, in which the life expectancy is limited to two ... See full document
7
Recessive REEP1 mutation is associated with congenital axonal neuropathy and diaphragmatic palsy
... variants. These variants were further filtered for a recessive inheritance model (the variant allele occurs in homozygous state in .20 healthy individuals from the ExAC database release 0.3 [Exome Aggregation Consortium; ... See full document
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