EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias

T Gasser, J Finsterer, J Baets… - European Journal of …, 2010 - Wiley Online Library
Background and purpose: These EFNS guidelines on the molecular diagnosis of
neurogenetic disorders are designed to provide practical help for the general neurologist to …

Congenital non‐central nervous system malformations in cerebral palsy: a distinct subset?

L Self, L Dagenais, M Shevell - Developmental Medicine & …, 2012 - Wiley Online Library
Aim The aim of this article was to identify and contrast the subset of children with cerebral
palsy (CP) and non‐central nervous system (CNS) congenital malformations with children …

Genetic mimics of cerebral palsy

TS Pearson, R Pons, R Ghaoui, CM Sue - Movement disorders, 2019 - Wiley Online Library
The term “cerebral palsy mimic” is used to describe a number of neurogenetic disorders that
may present with motor symptoms in early childhood, resulting in a misdiagnosis of cerebral …

[HTML][HTML] Challenges and controversies in the genetic diagnosis of hereditary spastic paraplegia

L Saputra, KR Kumar - Current neurology and neuroscience reports, 2021 - Springer
Abstract Purpose of Review The hereditary spastic paraplegias (HSPs) are a group of
disorders characterised by progressive lower limb weakness and spasticity. We address the …

[HTML][HTML] Genetic origin of patients having spastic paraplegia with or without other neurologic manifestations

J Chen, Z Zhao, H Shen, Q Bing, N Li, X Guo, J Hu - BMC neurology, 2022 - Springer
Background Hereditary spastic paraplegia (HSP) is a group of neurodegenerative diseases
characterized by lower-limb spastic paraplegia with highly genetic and clinical …

Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability

A Moreno-De-Luca, SL Helmers, H Mao… - Journal of medical …, 2011 - jmg.bmj.com
Background Cerebral palsy is a heterogeneous group of neurodevelopmental brain
disorders resulting in motor and posture impairments often associated with cognitive …

Comprehensive investigation of congenital anomalies in cerebral palsy: protocol for a European-Australian population-based data linkage study (The Comprehensive …

S Goldsmith, GG Jalon, N Badawi, E Blair, E Garne… - BMJ open, 2018 - bmjopen.bmj.com
Introduction Cerebral palsy (CP), an umbrella term for non-progressive conditions of
cerebral origin resulting in motor impairments, is collectively the most common cause of …

Population‐based studies of brain imaging patterns in cerebral palsy

SM Reid, CD Dagia, MR Ditchfield… - … Medicine & Child …, 2014 - Wiley Online Library
Aim The aim of this study was to review the distribution of neuroimaging findings from a
contemporary population cohort of individuals with cerebral palsy (CP) and to facilitate …

Clinical and genetic study of hereditary spastic paraplegia in Canada

N Chrestian, N Dupré, Z Gan-Or, A Szuto… - Neurology …, 2016 - AAN Enterprises
Objective: To describe the clinical, genetic, and epidemiologic features of hereditary spastic
paraplegia (HSP) in Canada and to determine which clinical, radiologic, and genetic factors …

Multiple motor disorders in cerebral palsy

H Dar, K Stewart, S McIntyre… - … Medicine & Child …, 2024 - Wiley Online Library
Aim To characterize motor disorders in children and young people with cerebral palsy (CP).
Method This was a cross‐sectional study of 582 children and young people with CP (mean …