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]

• Respiratory Insufficiency

  Andermann syndrome is associated with a shortened life expectancy related to respiratory insufficiency, but affected individuals typically live into adulthood. [medlineplus.gov]

• Joint Deformity

  As they get older, people with this disorder frequently develop joint deformities called contractures, which restrict the movement of certain joints. [medlineplus.gov]

• Hypertelorism

  Some people with Andermann syndrome have atypical physical features such as widely spaced eyes (ocular hypertelorism); a wide, short skull (brachycephaly); a high arch of the hard palate at the roof of the mouth; a big toe that crosses over the other [medlineplus.gov]

• 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]

• Peripheral Neuropathy

  Other Names for This Condition ACCPN Agenesis of corpus callosum with neuronopathy Agenesis of corpus callosum with peripheral neuropathy Agenesis of corpus callosum with polyneuropathy Charlevoix disease Hereditary motor and sensory neuropathy with agenesis [medlineplus.gov]

  Google Scholar Carpenter, S., Karpati G., Andermann, F., and Andermann, E., 1987, Peripheral neuropathy with agenesis of the corpus callosum: A unique clinicopathological entity, Ann. Neurol. (Abstract). [link.springer.com]

  Retrieved 2017-01-19. ^ a b "AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY; ACCPN". www.omim.org. Retrieved 2017-01-19. ^ a b c d e RESERVED, INSERM US14 -- ALL RIGHTS. [en.wikipedia.org]

• Tremor

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

• Polyneuropathy

  Other Names for This Condition ACCPN Agenesis of corpus callosum with neuronopathy Agenesis of corpus callosum with peripheral neuropathy Agenesis of corpus callosum with polyneuropathy Charlevoix disease Hereditary motor and sensory neuropathy with agenesis [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]