| Impaired autophagic flux | Accumulation of aberrant early autophagic structures and failure to form mature autophagosomes |
| Defective mitophagy | Inability to clear damaged mitochondria, leading to mitochondrial dysfunction and oxidative stress |
| ER stress | Accumulation of misfolded proteins due to impaired ER-phagy (selective autophagy of endoplasmic reticulum) |
| Iron dysregulation | Disrupted ferritinophagy (autophagic degradation of ferritin) leading to abnormal intracellular iron accumulation |
| Global developmental delay | Motor and language milestones are delayed, with most children achieving independent ambulation but with an abnormal gait |
| Intellectual disability | Ranges from mild to severe; most patients have moderate to severe cognitive impairment |
| Rett-like features | Stereotypic hand movements, bruxism, and sleep disturbances resembling Rett syndrome are common |
| Behavioral features | Hyperactivity, autistic traits, and disordered sleep |
| Disordered sleep | Disrupted sleep architecture with poor sleep initiation and maintenance |
| Parkinsonism | Progressive bradykinesia, rigidity, postural instability, and rest tremor. Initially levodopa-responsive, but response diminishes over time |
| Dystonia | Generalized or segmental dystonia, often severe, affecting limbs, trunk, and orofacial muscles |
| Cognitive decline | Progressive dementia with prominent frontal-subcortical features, often leading to loss of previously acquired language and functional abilities |
| Databases | OMIMOrphanetClinicalTrialsPubMed |
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