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Other Common Peripheral Neuropathies
Published in Maher Kurdi, Neuromuscular Pathology Made Easy, 2021
Giant axonal neuropathy (GAN) is a rare autosomal inherited disease. It occurs due to GAN gene mutation on chromosome 16q23 that encodes gigaxonin. The patient typically presents during childhood with kinky hair, peripheral neuropathy, white matter changes in the brain, and skeletal abnormalities. GAN does not require nerve biopsy. The diagnosis is always established through clinical ground. The presence of filamentous accumulation in the skin is enough for the diagnosis.
Industrial and environmental agents
Published in James W. Albers, Stanley Berent, Neurobehavioral Toxicology: Neurological and Neuropsychological Perspectives, 2005
James W. Albers, Stanley Berent
The determination of an acrylamide neuropathy for this patient was based on several considerations. First, there was a definite opportunity for exposure. Second, the dermatological features were consistent with the dermal irritant nature of acrylamide. In addition, increased sweating of the palms has been attributed to acrylamide exposure, although this finding by itself is non-specific. Third, peripheral signs of acrylamide intoxication include weakness, distal sensory loss, areflexia, and perhaps autonomic dysfunction with excessive sweating (LeQuesne, 1985). Vibration sensation loss is thought to be an early marker of neuropathy, correlating with the early involvement of fibers to Paccinian corpuscles. Fourth, signs suggestive of cerebellar involvement commonly are attributed to acrylamide. Fifth, the EMG evaluation, although limited, produced findings consistent with acrylamide intoxication (Table 10.1). Sixth and most importantly, the sural nerve biopsy showed evidence of focal axonal swellings containing masses of neurofilaments. This pathologic evidence, while not specific for acrylamide, is associated with a relatively small number of conditions, thereby greatly reducing the number of considerations in the differential diagnosis. The few conditions that produce a ‘giant axonal neuropathy’ include acrylamide intoxication. Although the case presentation did not provide sufficient follow-up information to establish the clinical outcome, removal from acrylamide exposure in the early stages of neuropathy results in the eventual complete recovery of the neuropathy (Gold & Schaumburg, 2000). Progression in the absence of ongoing exposure would not be consistent with acrylamide intoxication.
Extensive rod and cone photoreceptor-cell degeneration in rat models of giant axonal neuropathy: implications for gene therapy of human disease
Published in Ophthalmic Genetics, 2021
Diane Armao, Thomas W. Bouldin, Rachel M. Bailey, Steven J. Gray
Giant Axonal Neuropathy (GAN, OMIM #256850) is a rare, progressive, pediatric neurodegenerative disease that affects both the peripheral nervous system (PNS) and central nervous system (CNS) (1). The pathologic signature of GAN is the presence in PNS and CNS of axons that are focally distended by accumulations of intermediate filaments (IFs). The disease pathology is due to homozygous loss-of-function mutations in the GAN gene, which encodes the protein Gigaxonin. In children affected by GAN, early milestone development is normal (2). Disease onset is usually 3–4 years of age and is often heralded by clumsiness of gait. By the end of the second decade of life, most patients are non-ambulatory and have limited use of their arms and little to no use of their legs. Progressive visual impairment and optic atrophy are common (1,3). Death nearly always occurs by the third decade. Nerve biopsies reveal swollen axons filled with dense accumulations of neurofilaments and a decreased number of nerve fibers. Diagnosis is confirmed by sequencing the GAN gene.
AAV gene delivery to the spinal cord: serotypes, methods, candidate diseases, and clinical trials
Published in Expert Opinion on Biological Therapy, 2018
Nathan Hardcastle, Nicholas M. Boulis, Thais Federici
Like IV delivery, clinical translation of an AAV9-mediated IT delivery therapy has recently become a reality, but for giant axonal neuropathy (GAN) in this case [6]. Preclinical studies in animal models of candidate diseases, as well as the GAN Phase 1 clinical trial, will be discussed in further detail in the next sections.