Rare Diseases Symptoms Automatic Extraction

[Role of septin cytoskeleton in dopaminergic neurotransmission and neurodegeneration].

[neuralgic amyotrophy]

Cytoskeletal polymers play pleiotropic roles in neuroglial morphogenesis, intracellular transport, organization of pre- and post-synaptic scaffolds, etc. Thus, neuroglial dysfunction and degeneration are often accompanied by abnormalities in microtubules, actin and/or intermediate filament systems. Although our understanding of an unconventional cytoskeletal system composed of the septin family of GTP-binding proteins is far behind, recent studies have been revealing that qualitative and/or quantitative abnormalities of septins are also associated with neurodegenerative disorders including hereditary neuralgic amyotrophy, Parkinson disease, schizophrenia and bipolar disorder. A better understanding of the physiological and pathophysiological roles of the septin system should help develop useful biomarkers and therapeutic strategies for these diseases.

Diseases presenting "bipolar disorder" symptom

  • 22q11.2 deletion syndrome
  • achondroplasia
  • cadasil
  • neuralgic amyotrophy
  • zellweger syndrome

This symptom has already been validated