Spinal cord gray and white matter damage in different hereditary spastic paraplegia subtypes
KR Servelhere, RF Casseb… - American Journal …, 2021 - Am Soc Neuroradiology
BACKGROUND AND PURPOSE: Spinal cord damage is a hallmark of hereditary spastic
paraplegias, but it is still not clear whether specific subtypes of the disease have distinctive …
paraplegias, but it is still not clear whether specific subtypes of the disease have distinctive …
Diagnosis, investigation and management of hereditary spastic paraplegias in the era of next-generation sequencing
A Hensiek, S Kirker, E Reid - Journal of Neurology, 2015 - Springer
The hereditary spastic paraplegias (HSPs) are a group of genetic conditions in which spastic
paralysis of the legs is the principal clinical feature. This is caused by a relatively selective …
paralysis of the legs is the principal clinical feature. This is caused by a relatively selective …
The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP …
L Travaglini, C Aiello, F Stregapede, A D'Amico, V Alesi… - Neurogenetics, 2018 - Springer
Hereditary spastic paraplegias (HSP) are clinical and genetic heterogeneous diseases with
more than 80 disease genes identified thus far. Studies on large cohorts of HSP patients …
more than 80 disease genes identified thus far. Studies on large cohorts of HSP patients …
Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology
C Tesson, J Koht, G Stevanin - Human genetics, 2015 - Springer
Hereditary spastic paraplegias (HSP) are rare neurodegenerative diseases sharing the
degeneration of the corticospinal tracts as the main pathological characteristic. They are …
degeneration of the corticospinal tracts as the main pathological characteristic. They are …
A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes
C Dufke, N Schlipf, R Schüle, M Bonin… - neurogenetics, 2012 - Springer
Hereditary spastic paraplegias (HSP) are a heterogeneous group of neurological disorders.
Insidiously progressive spastic weakness of the lower extremities is the common criterion in …
Insidiously progressive spastic weakness of the lower extremities is the common criterion in …
[HTML][HTML] Decoding hereditary spastic paraplegia pathogenicity through transcriptomic profiling
Hereditary spastic paraplegia (HSP) is a group of genetic motor neuron diseases resulting
from length-dependent axonal degeneration of the corticospinal upper motor neurons. Due …
from length-dependent axonal degeneration of the corticospinal upper motor neurons. Due …
The hereditary spastic paraplegias
JK Fink - Handbook of Clinical Neurology, 2023 - Elsevier
The hereditary spastic paraplegias (HSPs) are a group of more than 90 genetic disorders in
which lower extremity spasticity and weakness are either the primary neurologic …
which lower extremity spasticity and weakness are either the primary neurologic …
Hereditary spastic paraplegia: clinicogenetic lessons from 608 patients
Objective Hereditary spastic paraplegias (HSPs) are genetically driven disorders with the
hallmark of progressive spastic gait disturbance. To investigate the phenotypic spectrum …
hallmark of progressive spastic gait disturbance. To investigate the phenotypic spectrum …
Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia
JL Méreaux, G Banneau, M Papin, G Coarelli, R Valter… - Brain, 2022 - academic.oup.com
Hereditary spastic paraplegia refers to rare genetic neurodevelopmental and/or
neurodegenerative disorders in which spasticity due to length-dependent damage to the …
neurodegenerative disorders in which spasticity due to length-dependent damage to the …
Recent advances in the genetics of spastic paraplegias
G Stevanin, M Ruberg, A Brice - Current neurology and neuroscience …, 2008 - Springer
Hereditary spastic paraplegias (HSPs) are genetically heterogeneous mendelian disorders
characterized by weakness and spasticity in the lower limbs associated with additional …
characterized by weakness and spasticity in the lower limbs associated with additional …