Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum
Ten mutations in a previously unidentified gene expressed ubiquitously in the nervous system but most prominently in the cerebellum, cerebral cortex, hippocampus and pineal gland are identified, suggesting a loss-of-function mechanism in ARHSP.
Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients
- D. Cassandrini, M. Cilio, E. Bertini
- Biology, MedicineJournal of Inherited Metabolic Disease
- 1 January 2013
Clinical, neuroimaging and molecular features on five patients from three unrelated families who displayed mutations in RARS2 are described, finding a relatively well preserved arginine aminoacylation of mitochondrial tRNA in Saccharomyces cerevisiae.
White matter lesions in spastic paraplegia with mutations in SPG5/CYP7B1
A Combined Nucleic Acid and Protein Analysis in Friedreich Ataxia: Implications for Diagnosis, Pathogenesis and Clinical Trial Design
This is the first explorative study on combined frataxin and mRNA levels in PBMCs from a cohort of FRDA patients, carriers and healthy individuals and proved to be diagnostic when comparing cFA with controls resulting in 100% sensitivity and specificity.
POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes.
Novel mutations in SPG11 cause hereditary spastic paraplegia associated with early‐onset levodopa‐responsive Parkinsonism
Background: Autosomal recessive hereditary spastic paraplegia with thin corpus callosum is a neurodegenerative disorder characterized by spastic paraparesis, cognitive impairment, and peripheral…
Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum
HSP-TCC is common in Italy and the phenotype is fairly homogeneous and is associated with impaired cognition, and there are at least two loci for HSP- TCC, one of which is on chromosome 15q13–15.
New findings in the ataxia of Charlevoix–Saguenay
The authors suggest that the hyperplastic pontocerebellar fibres compress the pyramidal tracts at the pons, and that the amount of retinal fibres traversing the optic discs is enlarged, which point to the contribution of an abnormal developmental mechanism in the ataxia of Charlevoix–Saguenay.
Late-onset MNGIE without peripheral neuropathy due to incomplete loss of thymidine phosphorylase activity
Revelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERFF phenotype.
The data propose that the G12147A change, the first mutation in the transfer RNA(His) gene associated with an overlapped MELAS/MERFF phenotype, is the cause of the encephalomyopathy in this patient interfering with the overall mitochondrial protein synthesis.