scholarly journals Slowed vertical saccades as a hallmark of hereditary spastic paraplegia type 7

2019 ◽  
Vol 6 (10) ◽  
pp. 2127-2132
Author(s):  
Ivan Milenkovic ◽  
Sigrid Klotz ◽  
Gudrun Zulehner ◽  
Thomas Sycha ◽  
Gerald Wiest
Keyword(s):  
Hereditary Spastic Paraplegia ◽  
Spastic Paraplegia ◽  
Vertical Saccades

Gait Patterns in Hereditary Spastic Paraplegia

2006 ◽  
Vol 37 (01) ◽  
Author(s):  
L Döderlein ◽  
D Metaxiotis ◽  
S Wolf ◽  
F Braatz
Keyword(s):  
Hereditary Spastic Paraplegia ◽  
Spastic Paraplegia ◽  
Gait Patterns

SPG10 in German families with hereditary spastic paraplegia

2006 ◽  
Vol 33 (S 1) ◽  
Author(s):  
R. Schüle ◽  
M. Auer-Grumbach ◽  
J. Kassubek ◽  
S. Klimpe ◽  
T. Klopstock ◽  
...  
Keyword(s):  
Hereditary Spastic Paraplegia ◽  
Spastic Paraplegia

Evolocumab (PCSK9 Inhibitor) in Hereditary Spastic Paraplegia Type 5

2020 ◽  
Author(s):  
Ying Fu ◽  
Xiang Lin ◽  
Yi-Jun Chen ◽  
Lu-Lu Lai ◽  
Yi Lin ◽  
...  
Keyword(s):  
Hereditary Spastic Paraplegia ◽  
Spastic Paraplegia ◽  
Pcsk9 Inhibitor

Thalamic atrophy in patients with pure hereditary spastic paraplegia type 4

2021 ◽  
Author(s):  
Francisco J. Navas-Sánchez ◽  
Alberto Fernández-Pena ◽  
Daniel Martín de Blas ◽  
Yasser Alemán-Gómez ◽  
Luís Marcos-Vidal ◽  
...  
Keyword(s):  
Hereditary Spastic Paraplegia ◽  
Spastic Paraplegia

Brain Damage and Gene Expression Across Hereditary Spastic Paraplegia Subtypes

2021 ◽  
Author(s):  
Katiane R. Servelhere ◽  
Thiago Junqueira Ribeiro Rezende ◽  
Fabrício Diniz Lima ◽  
Mariana Rabelo Brito ◽  
Renan Flávio França Nunes ◽  
...  
Keyword(s):  
Gene Expression ◽  
Brain Damage ◽  
Hereditary Spastic Paraplegia ◽  
Spastic Paraplegia

scholarly journals Mouse models for hereditary spastic paraplegia uncover a role of PI4K2A in autophagic lysosome reformation

Autophagy ◽  
2021 ◽  
pp. 1-17
Author(s):  
Mukhran Khundadze ◽  
Federico Ribaudo ◽  
Adeela Hussain ◽  
Henry Stahlberg ◽  
Nahal Brocke-Ahmadinejad ◽  
...  
Keyword(s):  
Mouse Models ◽  
Hereditary Spastic Paraplegia ◽  
Spastic Paraplegia

scholarly journals A Japanese hereditary spastic paraplegia family with a rare nonsynonymous variant in the SPAST gene

2021 ◽  
Vol 8 (1) ◽  
Author(s):  
Takuya Morikawa ◽  
Shiroh Miura ◽  
Takahisa Tateishi ◽  
Kazuhito Noda ◽  
Hiroki Shibata
Keyword(s):  
Molecular Diagnosis ◽  
Hereditary Spastic Paraplegia ◽  
Autosomal Dominant ◽  
Family Members ◽  
Pathogenic Variant ◽  
Lower Limbs ◽  
Spastic Paraplegia ◽  
Nonsynonymous Variant ◽  
Japanese Family ◽  
Functional Variants

AbstractSpastic paraplegia (SPG) type 4 is an autosomal dominant SPG caused by functional variants in the SPAST gene. We examined a Japanese family with three autosomal dominant SPG patients. These patients presented with typical symptoms of SPG, such as spasticity of the lower limbs. We identified a rare nonsynonymous variant, NM_014946.4:c.1252G>A [p.Glu418Lys], in all three family members. This variant has previously been reported in a Russian SPG family as a “likely pathogenic” variant.5 Ascertainment of additional patients carrying this variant in an unrelated Japanese SPG family further supports its pathogenicity. Molecular diagnosis of SPG4 in this family with hereditary spastic paraplegia is confirmed.

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