Hereditary spastic paraplegia: from diagnosis to emerging therapeutic approaches

S Shribman, E Reid, AH Crosby, H Houlden… - The Lancet …, 2019 - thelancet.com
Hereditary spastic paraplegia (HSP) describes a heterogeneous group of genetic
neurodegenerative diseases characterised by progressive spasticity of the lower limbs. The …

Organs to Cells and Cells to Organoids: The Evolution of in vitro Central Nervous System Modelling

D Pacitti, R Privolizzi, BE Bax - Frontiers in cellular neuroscience, 2019 - frontiersin.org
With 100 billion neurons and 100 trillion synapses, the human brain is not just the most
complex organ in the human body, but has also been described as “the most complex thing …

Defects in ER–endosome contacts impact lysosome function in hereditary spastic paraplegia

R Allison, JR Edgar, G Pearson, T Rizo… - Journal of Cell …, 2017 - rupress.org
Contacts between endosomes and the endoplasmic reticulum (ER) promote endosomal
tubule fission, but the mechanisms involved and consequences of tubule fission failure are …

[图书][B] Movement disorders in childhood

HS Singer, JW Mink, DL Gilbert, J Jankovic - 2015 - books.google.com
Movement Disorders in Childhood, Second Edition, provides the most up-to-date information
on the diseases and disorders that affect motor control, an important area of specialization …

Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking

R Behne, J Teinert, M Wimmer… - Human Molecular …, 2020 - academic.oup.com
Deficiency of the adaptor protein complex 4 (AP-4) leads to childhood-onset hereditary
spastic paraplegia (AP-4-HSP): SPG47 (AP4B1), SPG50 (AP4M1), SPG51 (AP4E1) and …

Circadian rhythms in bipolar disorder patient-derived neurons predict lithium response: preliminary studies

HK Mishra, NM Ying, A Luis, H Wei, M Nguyen… - Molecular …, 2021 - nature.com
A bstract Bipolar disorder (BD) is a neuropsychiatric illness defined by recurrent episodes of
mania/hypomania, depression and circadian rhythm abnormalities. Lithium is an effective …

Management of hereditary spastic paraplegia: a systematic review of the literature

M Bellofatto, G De Michele, A Iovino, A Filla… - Frontiers in …, 2019 - frontiersin.org
The term hereditary spastic paraplegia (HSP) embraces a clinically and genetically
heterogeneous group of neurodegenerative diseases characterized by progressive …

Clinical spectrum and genetic landscape for hereditary spastic paraplegias in China

EL Dong, C Wang, S Wu, YQ Lu, XH Lin, HZ Su… - Molecular …, 2018 - Springer
Background Hereditary spastic paraplegias (HSP) is a heterogeneous group of rare
neurodegenerative disorders affecting the corticospinal tracts. To date, more than 78 HSP …

Lipids in the physiopathology of hereditary spastic paraplegias

F Darios, F Mochel, G Stevanin - Frontiers in Neuroscience, 2020 - frontiersin.org
Hereditary spastic paraplegias (HSP) are a group of neurodegenerative diseases sharing
spasticity in lower limbs as common symptom. There is a large clinical variability in the …

Clinical and genetic update of hereditary spastic paraparesis

P Lallemant-Dudek, A Durr - Revue neurologique, 2021 - Elsevier
Hereditary spastic paraparesis is a group of inherited neurological diseases characterized
by underlying wide genetic heterogeneity. It should be suspected if there is a positive …