Clinically early-stage CSPα mutation carrier exhibits remarkable terminal stage neuronal pathology with minimal evidence of synaptic loss

Keyphrases

• Mutation Carriers 100%
• Neuronal Pathology 100%
• Synaptic Dysfunction 100%
• Terminal Stage 100%
• Cysteine String Protein α 100%
• Autosomal Dominant 80%
• Neuronal Ceroid Lipofuscinosis 80%
• Synaptic Proteins 60%
• Ceroid 40%
• DNAJC5 40%
• Neurodegeneration 20%
• Neuroinflammation 20%
• Brain Atrophy 20%
• Protein Level 20%
• Neuropil 20%
• Lysosomal Storage Disease 20%
• Soma 20%
• Multisystem Disease 20%
• Pathological Findings 20%
• Neuronal Loss 20%
• Disease-based 20%
• Early Disease 20%
• Intracellular Accumulation 20%
• Biochemical Analysis 20%
• Lysosome Function 20%
• SNAP-25 20%
• Complex Forms 20%
• Synaptophysin 20%
• Early Effect 20%
• SNARE Complex 20%
• Brain Homogenate 20%
• Frozen Samples 20%

Biochemistry, Genetics and Molecular Biology

• Cysteine 100%
• Autosomal Dominant Inheritance 80%
• Batten Disease 80%
• Neuronal Ceroid Lipofuscinosis 80%
• Lysosome 20%
• Lysosomal Storage Disease 20%
• Complex Formation 20%
• Brain Homogenate 20%
• Synaptophysin 20%
• Carisoprodol 20%

Neuroscience

• Cysteine String Protein 100%
• Neuronal Ceroid Lipofuscinosis 80%
• Ceroid 40%
• Neurodegeneration 20%
• Neuropil 20%
• Soma 20%
• Lysosome 20%
• Synaptosomal Associated Protein 25 20%
• Complex Formation 20%
• Synaptophysin 20%
• Carisoprodol 20%