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 …

The genetic landscape of Parkinson's disease

A Lunati, S Lesage, A Brice - Revue neurologique, 2018 - Elsevier
The cause of Parkinson's disease (PD) remains unknown in most patients. Since 1997, with
the first genetic mutation known to cause PD described in SNCA gene, many other genes …

G51D α‐synuclein mutation causes a novel Parkinsonian–pyramidal syndrome

S Lesage, M Anheim, F Letournel, L Bousset… - Annals of …, 2013 - Wiley Online Library
Objective To date, 3 rare missense mutations in the SNCA (α‐synuclein) gene and the more
frequent duplications or triplications of the wild‐type gene are known to cause a broad array …

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 …

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 …

Early‐onset L‐dopa‐responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations

C Paisán‐Ruiz, R Guevara, M Federoff… - Movement …, 2010 - Wiley Online Library
Seven autosomal recessive genes associated with juvenile and young‐onset Levodopa‐
responsive parkinsonism have been identified. Mutations in PRKN, DJ‐1, and PINK1 are …

Genetics and epigenetics of Parkinson′ s disease

F Coppedè - The Scientific World Journal, 2012 - Wiley Online Library
In 1997 a mutation in the a-synuclein (SNCA) gene was associated with familial autosomal
dominant Parkinson's disease (PD). Since then, several loci (PARK1‐15) and genes have …

Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78)

A Estrada-Cuzcano, S Martin, T Chamova, M Synofzik… - Brain, 2017 - academic.oup.com
Hereditary spastic paraplegias are heterogeneous neurodegenerative disorders
characterized by progressive spasticity of the lower limbs due to degeneration of the …

Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48

V Pensato, B Castellotti, C Gellera, D Pareyson… - Brain, 2014 - academic.oup.com
Hereditary spastic paraplegias are a heterogeneous group of neurodegenerative disorders,
clinically classified in pure and complex forms. Genetically, more than 70 different forms of …

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 …