Mutation analysis of the SPG4 gene in Italian patients with pure and complicated forms of spastic paraplegia

Mutation analysis ofSPAST,ATL1, andREEP1in Korean Patients with Hereditary Spastic Paraplegia

“…Among various clinical parameters of pure HSP, no significant correlation was found with the presence of a SPAST mutation in this study. Previous studies have found the onset age to be lower in SPAST -mutation-negative groups,32,33 and another study found that the disease progression was faster in patients with late-onset SPAST HSP than in those with early-onset HSP 15. In addition, wheelchair use and abnormal vibration sense in the lower limbs were more common in a SPAST -mutation-positive group 34.…”

Mutation analysis ofSPAST,ATL1, andREEP1in Korean Patients with Hereditary Spastic Paraplegia

“…Among various clinical parameters of pure HSP, no significant correlation was found with the presence of a SPAST mutation in this study. Previous studies have found the onset age to be lower in SPAST -mutation-negative groups,32,33 and another study found that the disease progression was faster in patients with late-onset SPAST HSP than in those with early-onset HSP 15. In addition, wheelchair use and abnormal vibration sense in the lower limbs were more common in a SPAST -mutation-positive group 34.…”

The Global Epidemiology of Hereditary Ataxia and Spastic Paraplegia: A Systematic Review of Prevalence Studies

“…table 2), reaching the highest relative frequency in Rio Grande do Sul (Brazil) [17], with 89%. SCA2 was the most common form in Cantabria (Spain; 33% of families) [18], and the second most common in Padua (Italy; 45% of patients) [19], southeast Norway [20] and Singapore [17]. SCA6 was the second most common form in the Netherlands [21] and Japan [22].…”

Genome sequencing uncovers phenocopies in primary progressive multiple sclerosis

“…Therefore, our analysis might underestimate the prevalence of such mutations in progressive forms of MS. Fifth, the enrichment of spastic paraplegia mutations in PPMS patients was not detected in the Italian cohort. The genetic variation of Italian Europeans can be distinguished from that of other European populations, and known common pathogenic spastic paraplegia mutations in this population were not captured on the MS replication chip. Last, whereas clinical genetic testing may be useful in refining a diagnosis when it is in question, the utility of genetic testing in PPMS patients is currently limited given the lack of disease‐modifying treatments for the Mendelian genetic variants that might contribute to a progressive disease course.…”

Mutation analysis ofSPAST,ATL1, andREEP1in Korean Patients with Hereditary Spastic Paraplegia

“…Among various clinical parameters of pure HSP, no significant correlation was found with the presence of a SPAST mutation in this study. Previous studies have found the onset age to be lower in SPAST -mutation-negative groups,32,33 and another study found that the disease progression was faster in patients with late-onset SPAST HSP than in those with early-onset HSP 15. In addition, wheelchair use and abnormal vibration sense in the lower limbs were more common in a SPAST -mutation-positive group 34.…”

The Global Epidemiology of Hereditary Ataxia and Spastic Paraplegia: A Systematic Review of Prevalence Studies

“…table 2), reaching the highest relative frequency in Rio Grande do Sul (Brazil) [17], with 89%. SCA2 was the most common form in Cantabria (Spain; 33% of families) [18], and the second most common in Padua (Italy; 45% of patients) [19], southeast Norway [20] and Singapore [17]. SCA6 was the second most common form in the Netherlands [21] and Japan [22].…”

Genome sequencing uncovers phenocopies in primary progressive multiple sclerosis

“…Therefore, our analysis might underestimate the prevalence of such mutations in progressive forms of MS. Fifth, the enrichment of spastic paraplegia mutations in PPMS patients was not detected in the Italian cohort. The genetic variation of Italian Europeans can be distinguished from that of other European populations, and known common pathogenic spastic paraplegia mutations in this population were not captured on the MS replication chip. Last, whereas clinical genetic testing may be useful in refining a diagnosis when it is in question, the utility of genetic testing in PPMS patients is currently limited given the lack of disease‐modifying treatments for the Mendelian genetic variants that might contribute to a progressive disease course.…”

Mutation analysis ofSPAST,ATL1, andREEP1in Korean Patients with Hereditary Spastic Paraplegia

“…Among various clinical parameters of pure HSP, no significant correlation was found with the presence of a SPAST mutation in this study. Previous studies have found the onset age to be lower in SPAST -mutation-negative groups,32,33 and another study found that the disease progression was faster in patients with late-onset SPAST HSP than in those with early-onset HSP 15. In addition, wheelchair use and abnormal vibration sense in the lower limbs were more common in a SPAST -mutation-positive group 34.…”

The Global Epidemiology of Hereditary Ataxia and Spastic Paraplegia: A Systematic Review of Prevalence Studies

“…table 2), reaching the highest relative frequency in Rio Grande do Sul (Brazil) [17], with 89%. SCA2 was the most common form in Cantabria (Spain; 33% of families) [18], and the second most common in Padua (Italy; 45% of patients) [19], southeast Norway [20] and Singapore [17]. SCA6 was the second most common form in the Netherlands [21] and Japan [22].…”

Genome sequencing uncovers phenocopies in primary progressive multiple sclerosis

“…Therefore, our analysis might underestimate the prevalence of such mutations in progressive forms of MS. Fifth, the enrichment of spastic paraplegia mutations in PPMS patients was not detected in the Italian cohort. The genetic variation of Italian Europeans can be distinguished from that of other European populations, and known common pathogenic spastic paraplegia mutations in this population were not captured on the MS replication chip. Last, whereas clinical genetic testing may be useful in refining a diagnosis when it is in question, the utility of genetic testing in PPMS patients is currently limited given the lack of disease‐modifying treatments for the Mendelian genetic variants that might contribute to a progressive disease course.…”