Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms

JK Fink - Acta neuropathologica, 2013 - Springer
Hereditary spastic paraplegia (HSP) is a syndrome designation describing inherited
disorders in which lower extremity weakness and spasticity are the predominant symptoms …

[HTML][HTML] Hereditary spastic paraplegia: clinical-genetic characteristics and evolving molecular mechanisms

TL Giudice, F Lombardi, FM Santorelli, T Kawarai… - Experimental …, 2014 - Elsevier
Hereditary spastic paraplegia (HSP) is a group of clinically and genetically heterogeneous
neurological disorders characterized by pathophysiologic hallmark of length-dependent …

Hereditary spastic paraplegia: clinical and genetic hallmarks

PVS de Souza, WBV de Rezende Pinto… - The Cerebellum, 2017 - Springer
Hereditary spastic paraplegia comprises a wide and heterogeneous group of inherited
neurodegenerative and neurodevelopmental disorders resulting from primary retrograde …

The genetics and neuropathology of Parkinson's disease

H Houlden, AB Singleton - Acta neuropathologica, 2012 - Springer
There has been tremendous progress toward understanding the genetic basis of
Parkinson's disease and related movement disorders. We summarize the genetic, clinical …

Genetic and phenotypic characterization of complex hereditary spastic paraplegia

E Kara, A Tucci, C Manzoni, DS Lynch, M Elpidorou… - Brain, 2016 - academic.oup.com
The hereditary spastic paraplegias are a heterogeneous group of degenerative disorders
that are clinically classified as either pure with predominant lower limb spasticity, or complex …

Synthesis and degradation pathways, functions, and pathology of ceramides and epidermal acylceramides

A Kihara - Progress in lipid research, 2016 - Elsevier
Ceramide (Cer) is a structural backbone of sphingolipids and is composed of a long-chain
base and a fatty acid. Existence of a variety of Cer species, which differ in chain-length …

Overcoming the divide between ataxias and spastic paraplegias: shared phenotypes, genes, and pathways

M Synofzik, R Schüle - Movement Disorders, 2017 - Wiley Online Library
Autosomal‐dominant spinocerebellar ataxias, autosomal‐recessive spinocerebellar ataxias,
and hereditary spastic paraplegias have traditionally been designated in separate …

Insights into clinical, genetic, and pathological aspects of hereditary spastic paraplegias: a comprehensive overview

LEO Elsayed, IZ Eltazi, AE Ahmed… - Frontiers in Molecular …, 2021 - frontiersin.org
Hereditary spastic paraplegias (HSP) are a heterogeneous group of motor
neurodegenerative disorders that have the core clinical presentation of pyramidal syndrome …

Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance

J Finsterer, W Löscher, S Quasthoff, J Wanschitz… - Journal of the …, 2012 - Elsevier
Hereditary spastic paraplegia (SPG) is a clinically and genetically heterogeneous group of
neurodegenerative disorders that are clinically characterised by progressive spasticity and …

[HTML][HTML] Neurodegeneration with brain iron accumulation: diagnosis and management

P Hogarth - Journal of movement disorders, 2015 - ncbi.nlm.nih.gov
Neurodegeneration with brain iron accumulation (NBIA) encompasses a group of inherited
disorders that share the clinical features of an extrapyramidal movement disorder …