KIF1A-Related Disorder - Symptoms, Causes, Treatment | NORD
2023年9月29日 · Eventually, affected children may develop spastic paraplegia, a condition in which people have difficulty walking due to muscle weakness and muscle tightness (spasticity) in the legs. Spastic paraplegia can become progressively worse, significantly affecting the ability walk and get around.
KIF1A variants are a frequent cause of autosomal dominant …
2019年9月5日 · Here, we describe 20 KIF1A variants in 24 patients from a clinical exome sequencing cohort of 347 individuals with a mostly ‘pure’ spastic paraplegia. In these patients, spastic...
KIF1A -related autosomal dominant spastic paraplegias (SPG30) …
Spastic paraplegia type 30 (SPG30) caused by KIF1A mutations was first reported in 2011 and was initially considered a very rare autosomal recessive (AR) form. In the last years, thanks to the development of massive parallel sequencing, SPG30 proved to be a rather common autosomal dominant (AD) form of familial or sporadic spastic paraplegia ...
KIF1A-related autosomal dominant spastic paraplegias (SPG30
2020年8月3日 · Background: Spastic paraplegia type 30 (SPG30) caused by KIF1A mutations was first reported in 2011 and was initially considered a very rare autosomal recessive (AR) form. In the last years, thanks to the development of massive parallel sequencing, SPG30 proved to be a rather common autosomal dominant (AD) form of familial or sporadic spastic ...
KIF1A variants are a frequent cause of autosomal dominant …
2019年9月5日 · The motor domain of KIF1A is a hotspot for disease causing variants in autosomal dominant spastic paraplegia, similar to mental retardation type 9 and recessive spastic paraplegia type 30. However, unlike these allelic disorders, dominant spastic paraplegia was also caused by loss-of-function variants outside this domain in six families.
Hereditary Spastic Paraplegia Overview - GeneReviews® - NCBI Bookshelf
2000年8月15日 · Bilateral lower-extremity spasticity (maximal in hamstrings, quadriceps, adductors, and gastrocnemius-soleus muscles) and weakness (maximal in the iliopsoas, hamstring, and tibialis anterior muscles). Spasticity and weakness are variable.
Autosomal dominant transmission of complicated hereditary spastic ...
2017年10月2日 · Homozygous mutations of KIF1A have been identified in a recessive subtype of hereditary spastic paraplegia (HSP), SPG30. In addition, KIF1A mutations have been found in pure HSP with autosomal dominant inheritance. Here we report the first case of familial complicated HSP with a KIF1A mutation transmitted in autosomal dominant inheritance.
Autosomal dominant transmission of complicated hereditary spastic ...
2017年10月2日 · Homozygous mutations of KIF1A have been identified in a recessive subtype of hereditary spastic paraplegia (HSP), SPG30. In addition, KIF1A mutations have been found in pure HSP with...
KIF1A missense mutations in SPG30, an autosomal recessive spastic ...
KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations Eur J Hum Genet. 2012 Jun;20(6) :645-9. doi ... Comparison of the clinical features with the nature of the mutations of all reported KIF1A families, including those reported recently with hereditary sensory ...
Hereditary spastic paraplegias are a clinically and genetically heterogeneous group of disorders characterized by lower extremity spasticity and weakness. Recently, the first de novo mutations in KIF1A were identified in patients with an early-onset severe form of …