scholarly journals A new form of childhood onset, autosomal recessive spinocerebellar ataxia and epilepsy is localized at 16q21-q23

Brain ◽  
2007 ◽  
Vol 130 (7) ◽  
pp. 1921-1928 ◽  
Author(s):  
M. Gribaa ◽  
M. Salih ◽  
M. Anheim ◽  
C. Lagier-Tourenne ◽  
D. H'mida ◽  
...  
Keyword(s):  
Spinocerebellar Ataxia ◽  
Autosomal Recessive ◽  
Childhood Onset ◽  
New Form

Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28)

2005 ◽  
Vol 57 (4) ◽  
pp. 567-571 ◽  
Author(s):  
Naima Bouslam ◽  
Ali Benomar ◽  
Hamid Azzedine ◽  
Ahmed Bouhouche ◽  
Michito Namekawa ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Spastic Paraplegia ◽  
New Form

scholarly journals Hereditary spastic paraplegia associated with a rare endoplasmic reticulum lipid raft-associated protein 2 mutation

2020 ◽  
Vol 7 (10) ◽  
pp. 2077
Author(s):  
Sai Chandar Dudipala ◽  
Naveen Reddy Cheruku ◽  
Krishna Chaithanya Battu
Keyword(s):  
Endoplasmic Reticulum ◽  
Cerebral Palsy ◽  
Lipid Raft ◽  
Hereditary Spastic Paraplegia ◽  
Autosomal Recessive ◽  
Adult Population ◽  
Complex Form ◽  
Spastic Paraplegia ◽  
Childhood Onset ◽  
Exonic Deletion

Hereditary spastic paraplegia (HSP) is a clinically and genetically heterogeneous group of neurological disorders that are characterized by progressive spasticity of the lower extremities. It can present as pure form or complex form. It can be present from infancy to adulthood, but majority in adult population. Childhood onset HSP must be differentiated from common conditions like cerebral palsy, neurodegenerative disorders and metabolic disorders. Many patients with pediatric HSP are mistakenly diagnosed with cerebral palsy. In children with spastic paraplegia in whom no acquired cause identified, HSP should be considered. Here we diagnosed a 6-year-old boy with HSP who presented with progressive spastic paraplegia, intellectual disability, seizures, joint contractures and cataract. His genetic study revealed exonic deletion of endoplasmic reticulum lipid raft-associated protein gene, which is associated with complicated Autosomal recessive HSP 18 (SPG18). HSP 18 was rarely described in literature.

Autosomal recessive spinocerebellar ataxia 18 caused by homozygous exon 14 duplication in GRID2 and review of the literature

2020 ◽  
Author(s):  
Ahmet Cevdet Ceylan ◽  
Elif Acar Arslan ◽  
Haktan Bağış Erdem ◽  
Haluk Kavus ◽  
Mutluay Arslan ◽  
...  
Keyword(s):  
Spinocerebellar Ataxia ◽  
Autosomal Recessive ◽  
Review Of The Literature

scholarly journals SYNE1-related autosomal recessive cerebellar ataxia, congenital cerebellar hypoplasia, and cognitive impairment

2018 ◽  
Author(s):  
Lauren Swan ◽  
John Cardinal ◽  
David Coman
Keyword(s):  
Cognitive Impairment ◽  
Autosomal Recessive ◽  
Age Of Onset ◽  
Clinical Phenotype ◽  
Cerebellar Hypoplasia ◽  
Childhood Onset ◽  
Spectrin Repeat ◽  
Disease Phenotypes ◽  
Related Disease ◽  
Autosomal Recessive Cerebellar Ataxia

The spectrin repeat-containing nuclear envelope protein 1 (SYNE1) gene encodes a family of spectrin structural proteins that are associated with anchoring the plasma membrane to the actin cytoskeleton. SYNE1-related disease is most commonly reported in autosomal recessive spinocerebellar ataxia 8, which demonstrates variable age of onset with a median of 30 years of age. However pathogenic mutations in SYNE1 are also causative of arthrogryposis multiplex congenital, a severe congenital neuromuscular condition. Here in we report monozygous twins with childhood onset ataxia, cerebellar hypoplasia, dysarthria, and cognitive impairment sharing two novel heterozygous mutations in the SYNE1 gene. Our family may expand the clinical phenotype associated with SYNE1-related disease and offers possible genotype-phenotype correlations of a rare continuum of clinical disease phenotypes from neonatal to adult onset.

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