Giant axonal disease: Report of eight cases

İncecik, Faruk; Hergüner, Özlem; Ceylaner, Serdar; Zorludemir, Suzan; Altunbaşak, Şakìr

doi:10.1016/j.braindev.2014.12.002

Cited by 7 publications

(4 citation statements)

References 18 publications

(28 reference statements)

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“…GAN is also associated with gastrointestinal (GI) and systemic issues including constipation, reflux, regurgitation, diabetes, renal tubular acidosis, and lactose intolerance [ 30 , 32 , 34 , 45 , 46 ].Some patients may also suffer from precocious puberty, arched feet, scoliosis, tendon contracture, and lumbar hyper-lordosis [ 8 , 22 , 23 , 25 , 29 ]. GAN patients often have a characteristic physical appearance with kinky hair, long eyelashes, a high forehead, pale skin, and facial diplegia [ 26 ].…”

Section: Clinical Heterogeneity In Persons With Ganmentioning

confidence: 99%

“…Specifically, gigaxonin plays an important role in the breakdown of neurofilament (NF) [ 8 ], where the cellular hallmark of GAN pathology is the formation of its large aggregates [ 2 , 3 , 5 ]. According to the Leiden Open Variation Database (LOVD) (updated 2022), National Center for Biotechnology Information (NCBI) (updated 2022), and the mutation summary reported by Lescouzères and Bomont, P. (2020), there are 89 variants that lead to manifestation of GAN ( Figure 1 ) [ 5 , 8 , 9 , 10 , 11 , 12 , 13 , 14 , 15 , 16 , 17 , 18 , 19 , 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 , 36 ].…”

Section: Introductionmentioning

confidence: 99%

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Genetic Approaches for the Treatment of Giant Axonal Neuropathy

Shirakaki

Roshmi

Yokota

2022

JPM

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Giant axonal neuropathy (GAN) is a pediatric, hereditary, neurodegenerative disorder that affects both the central and peripheral nervous systems. It is caused by mutations in the GAN gene, which codes for the gigaxonin protein. Gigaxonin plays a role in intermediate filament (IF) turnover hence loss of function of this protein leads to IF aggregates in various types of cells. These aggregates can lead to abnormal cellular function that manifests as a diverse set of symptoms in persons with GAN including nerve degeneration, cognitive issues, skin diseases, vision loss, and muscle weakness. GAN has no cure at this time. Currently, an adeno-associated virus (AAV) 9-mediated gene replacement therapy is being tested in a phase I clinical trial for the treatment of GAN. This review paper aims to provide an overview of giant axonal neuropathy and the current efforts at developing a treatment for this devastating disease.

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Section: Clinical Heterogeneity In Persons With Ganmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Genetic Approaches for the Treatment of Giant Axonal Neuropathy

Shirakaki

Roshmi

Yokota

2022

JPM

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“…Additionally, individuals with GAN may also experience oculomotor and facial cranial nerve dysfunction [ 1 , 4 ]. As the disease progresses, it can involve regions of the brain including the cerebral cortex, cerebellum, brain stem, and pyramidal tract, leading to symptoms like dysarthria, intellectual impairment, seizures, and cerebellar dysfunction [ 5 ]. One of the diagnostic indicators of GAN is the presence of coarse, kinky hair, although this symptom may not always be present.…”

Section: Introductionmentioning

confidence: 99%

Giant Axonal Neuropathy: A Case Report of Subclinical Childhood Manifestations

Bamaga,

Muthaffar,

Alyazidi

et al. 2024

Cureus

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Giant axonal neuropathy (GAN) is a rare, inherited neurodegenerative disease that affects both the central and peripheral nervous systems. It is mostly characterized by a progressive loss of motor and sensory function, which can begin in early childhood. GAN is thought to be caused by a mutation in the GAN gene on chromosome 16q24.1. We report a seven-year-old Saudi male child with GAN who was diagnosed using whole-exome sequencing. The child presented with a history of progressive weakness and muscle wasting in the arms and legs as well as difficulty walking. The sequencing identified a mutation in the GAN gene (NM_022041.3: c.1456G>A). Electrodiagnostic studies showed evidence of diffuse axonal motor and sensory polyneuropathy involving cranial nerves. This case report adds to the growing evidence that whole-exome sequencing can be a useful tool for diagnosing rare inherited neuromuscular disorders. It also highlights the importance of early diagnosis and intervention for this condition.

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“…1,4 Involvement of cerebral cortex, cerebellum, brain stem, and pyramidal tract can develop over time, causing symptoms like cerebellar dysfunction, intellectual disability, seizures, nystagmus, and dysarthria. 5 Brain magnetic resonance imaging (MRI) especially shows findings of white matter abnormalities, resembling leukodystrophies. 6 Coarse and kinky hair is one of the diagnostic features of the disease, though this can be absent in some cases.…”

mentioning

confidence: 99%

Giant axonal neuropathy: A differential diagnosis of consideration

Edem¹,

Karakaya²,

Wirth³

et al. 2019

Turk J Pediatr

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Giant axonal neuropathy (GAN) is a rare neurodegenerative disorder affecting both the central and peripheral nervous systems progressively. The recessive mutations of the GAN gene are responsible for the disease. Although some clinical aspects, like coarse and kinky hair, are suggestive, other diseases may interfere with diagnosis. We describe a case who previously had been diagnosed with and treated for chronic inflammatory demyelinating polyradiculoneuropathy (CIDP); after re-evaluation, genetic testing was received, and the patient was diagnosed with GAN.

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Giant axonal disease: Report of eight cases

Cited by 7 publications

References 18 publications

Genetic Approaches for the Treatment of Giant Axonal Neuropathy

Genetic Approaches for the Treatment of Giant Axonal Neuropathy

Giant Axonal Neuropathy: A Case Report of Subclinical Childhood Manifestations

Giant axonal neuropathy: A differential diagnosis of consideration

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