Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The clinical and pathological details of a case of canine giant axonal neuropathy are presented. An 18-month-old alsatian had hind leg ataxia, weakness, hypotonia and loss of patellar reflexes. Electrophysiological studies demonstrated denervation of the distal hind leg muscles and abnormal nerve conduction velocities. Biopsy and post mortem examination of the peripheral nervous system (PNS) demonstrated large anoxal swellings, up to 28mu in diameter. Electron microscopy showed these swellings to be composed almost entirely of neurofilaments. Similar giant axons were found in the central nervous system (CNS) and the distribution of the lesions in the CNS and PNS was suggestive of a 'Dying Back' disease. The possible aetiology of this new canine condition is discussed.
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PMID:Canine giant axonal neuropathy. 59 96

Giant axonal neuropathy is a rare autosomal recessive neurodegenerative disease. The condition is characterized by neurons with abnormally large axons due to intracellular filament accumulation. The swollen axons affect both the peripheral and central nervous system. A 6-year old female patient had been referred to a geneticist reporting problems with walking and hypotonia. At the age of 10, she became wheelchair dependent. Scanning electron microscopy of a curly hair classified it as pili canaliculi. GAN gene sequencing demonstrated mutation c.1456G>A (p.GLU486LYS). At the age of 12, the patient died due to respiratory complications. Dermatologists should be aware of this entity since hair changes are considered suggestive of GAN.
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PMID:Pili canaliculi as manifestation of giant axonal neuropathy. 2830 Sep 18