Biallelic COQ4 Variants in Hereditary Spastic Paraplegia: Clinical and Molecular Characterization
X Lin, JY Jiang, D Hong, KJ Lin, JJ Li… - Movement …, 2024 - Wiley Online Library
Background Hereditary spastic paraplegias (HSP) are neurologic disorders characterized by
progressive lower‐extremity spasticity. Despite the identification of several HSP‐related …
progressive lower‐extremity spasticity. Despite the identification of several HSP‐related …
A novel missense mutation in SPAST causes hereditary spastic paraplegia in male members of a family: A case report
XC Wang, RH Liu, T Wang… - Molecular …, 2023 - spandidos-publications.com
Hereditary spastic paraplegia (HSP) comprises a group of hereditary and
neurodegenerative diseases that are characterized by axonal degeneration or …
neurodegenerative diseases that are characterized by axonal degeneration or …
Clinical and genetic characteristics in a Chinese cohort of complex spastic paraplegia type 4
L Yao, Y Cao, C Zhang, X Huang, W Tian… - Clinical …, 2024 - Wiley Online Library
Abstract Spastic paraplegia type 4 (SPG4), caused by SPAST mutations, is the most
predominant subtype of hereditary spastic paraplegia. Most documented SPG4 patients …
predominant subtype of hereditary spastic paraplegia. Most documented SPG4 patients …
A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
L Hua, Y Zhao, YS Han - JAMA neurology, 2024 - jamanetwork.com
Discussion Motor developmental disorders in infancy and early childhood indicated cerebral
palsy (CP). CP-associated movement disorders include spasticity, ataxia, and involuntary …
palsy (CP). CP-associated movement disorders include spasticity, ataxia, and involuntary …
A Retrospective, Cross-Sectional Analysis of Motor Development, Cognition, and Mood in 87 Patients With Childhood-Onset Hereditary Spastic Paraplegias
BM Marvel, L Smith, JJ Rios, MR Christie - Pediatric Neurology, 2024 - Elsevier
Background HSP is a heterogeneous group of rare genetic diseases. In childhood, little is
known of the development and psychological manifestations. Methods Retrospective …
known of the development and psychological manifestations. Methods Retrospective …
Clinical actionability of genetic findings in cerebral palsy
Background and objectives: Single gene mutations are increasingly recognized as causes
of cerebral palsy (CP) phenotypes, yet there is currently no standardized framework for …
of cerebral palsy (CP) phenotypes, yet there is currently no standardized framework for …
[PDF][PDF] Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST
LPA Salazar - Movement Disorders, 2023 - researchgate.net
We read with interest the manuscript by Mo et al1 confirming that de novo variants in SPAST
lead to a severe form of hereditary spastic paraplegia (HSP), with delayed motor milestones …
lead to a severe form of hereditary spastic paraplegia (HSP), with delayed motor milestones …
Ataxia and spasticity
JK Fink - Neurogenetics for the Practitioner, 2024 - Elsevier
The hereditary spastic paraplegias (HSPs) are a large group of highly diverse, inherited
disorders that share the common feature of lower extremity spasticity and weakness. Nearly …
disorders that share the common feature of lower extremity spasticity and weakness. Nearly …
Reply to: Early Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST
A Saffari, D Ebrahimi-Fakhari - Movement disorders: official journal …, 2023 - ncbi.nlm.nih.gov
Since the publication of our report 1, we have evaluated 10 additional children and young
adults with de novo variants in SPAST (Table 1). The rapid detection of these cases, some …
adults with de novo variants in SPAST (Table 1). The rapid detection of these cases, some …