13 (2004) DOI:10.1038/ng1419 Reference PMID:15138899 (NPHP1) Authors Parisi MA, Bennett CL, Eckert ML, Dobyns WB, Gleeson JG, Shaw DW, McDonald R, Eddy A, Chance PF, Glass IA Title The NPHP1 gene deletion associated with juvenile nephronophthisis is present [genome.jp]

• Weakness

  People affected by Andermann syndrome have abnormal or absent reflexes (areflexia) and weak muscle tone (hypotonia). [medlineplus.gov]

• Inflammation

  L., Venegas, C., & Grünewald, A. (2021). iPSC-Derived Microglia as a Model to Study Inflammation in Idiopathic Parkinson’s Disease. Frontiers in Cell and Developmental Biology, 9, 740758. https://doi.org/10.3389/fcell.2021.740758 Barbuti, P. [parkinson.lu]

• Muscle Weakness

  People affected by Andermann syndrome have abnormal or absent reflexes (areflexia) and weak muscle tone (hypotonia). [medlineplus.gov]

• Delusion

  7] Symptoms and signs[edit] Symptoms begin in infancy and include:[2][4] hypotonia areflexia amyotrophy variable degrees of dysgenesis of the corpus callosum mild to severe intellectual and developmental delay psychiatric problems including paranoid delusions [en.wikipedia.org]

• Areflexia

  "Familial agenesis of the corpus callosum with anterior horn cell disease: a syndrome of mental retardation, areflexia, and paraplegia". [en.wikipedia.org]

  A syndrome of mental retardation, areflexia and paraparesis, Trans. Am. Neurol. Assoc. 97: 242–244. [link.springer.com]

  People affected by Andermann syndrome have abnormal or absent reflexes (areflexia) and weak muscle tone (hypotonia). [medlineplus.gov]

• Facial Muscle Weakness

  Cranial nerve problems may result in facial muscle weakness, drooping eyelids (ptosis), and difficulty following movements with the eyes (gaze palsy). [medlineplus.gov]

• Tremor

  They experience muscle wasting (amyotrophy), severe progressive weakness and loss of sensation in the limbs, and rhythmic shaking (tremors). [medlineplus.gov]

[…] other irreversible changes.[8] The lack of innervation of the body musculature during development gives rise to small body weights, often below 40 kg (88 lb), remarkable in view of the preserved brain weights.[8] Diagnosis[edit] A typical diagnostic workup [en.wikipedia.org]

[…] typical diagnostic workup includes:[9] Clinical features Electrophysiologic testing Molecular genetic testing (SLC12A6) Magnetic resonance imaging of the brain (revealing in 60% of the patients callosal agenesis and in 10% partial callosal agenesis) Treatment [en.wikipedia.org]

A patient-based model of RNA mis-splicing uncovers treatment targets in Parkinson's disease. [parkinson.lu]

[edit] The prognosis is poor. [en.wikipedia.org]

CAS Google Scholar Nagy, J.R., 1982, Familial agenesis of the corpus callosum with sensorimotor neuropathy: genetic and epidemiological studies, Unpublished Master’s thesis, McGill University, Montreal. [link.springer.com]

The Role of DJ-1 in Cellular Metabolism and Pathophysiological Implications for Parkinson’s Disease. Cells, 10(2), 347. https://doi.org/10.3390/cells10020347 Rauschenberger, A., & Glaab, E. (2021). Predicting correlated outcomes from molecular data. [parkinson.lu]