Giant axonal neuropathy: A differential diagnosis of consideration

Edem, Pınar; Karakaya, Mert; Wirth, Brunhilde; Okur, Tuncay Derya; Yış, Uluç

doi:10.24953/turkjped.2019.02.019

Cited by 5 publications

(6 citation statements)

References 11 publications

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“…In addition, neuropathology finding in nerve biopsy, such as giant axons, is not only specific to GAN but also considered an invasive method (Jaffer et al, 2012 ). Laboratory evaluation results are also nonspecific and neuroimaging findings comprise heterogeneous and nonspecific features, that could not lead to narrowing the differential diagnosis (Aharoni et al, 2016 ; Almeida et al, 2016 ; Cai et al, 2018 ; Echaniz‐Laguna et al, 2020 ; Edem et al, 2019 ; Garg et al, 2018 ; Jain et al, 2014 ; Johnson‐Kerner et al, 2014 ; Kamate et al, 2014 ; Koichihara et al, 2016 ; Mohammad et al, 2014 ; Xu et al, 2020 ). As a result, molecular diagnostic methods, such as whole‐exome sequencing, play a key role in approaching these patients (Bacquet et al, 2018 ).…”

Section: Discussionmentioning

confidence: 99%

Expanding the genetic spectrum of giant axonal neuropathy: Two novel variants in Iranian families

Ashrafi

Dehnavi

Tavasoli

et al. 2023

Molec Gen & Gen Med

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Background Giant axonal neuropathy (GAN) is a progressive childhood hereditary polyneuropathy that affects both the peripheral and central nervous systems. Disease‐causing variants in the gigaxonin gene (GAN) cause autosomal recessive giant axonal neuropathy. Facial weakness, nystagmus, scoliosis, kinky or curly hair, pyramidal and cerebellar signs, and sensory and motor axonal neuropathy are the main symptoms of this disorder. Here, we report two novel variants in the GAN gene from two unrelated Iranian families. Methods Clinical and imaging data of patients were recorded and evaluated, retrospectively. Whole‐exome sequencing (WES) was undertaken in order to detect disease‐causing variants in participants. Confirmation of a causative variant in all three patients and their parents was carried out using Sanger sequencing and segregation analysis. In addition, for comparing to our cases, we reviewed all relevant clinical data of previously published cases of GAN between the years 2013–2020. Results Three patients from two unrelated families were included. Using WES, we identified a novel nonsense variant [NM_022041.3:c.1162del (p.Leu388Ter)], in a 7‐year‐old boy of family 1, and a likely pathogenic missense variant [NM_022041.3:c.370T>A (p.Phe124Ile)], in two affected siblings of the family 2. Clinical examination revealed typical features of GAN‐1 in all three patients, including walking difficulties, ataxic gait, kinky hair, sensory‐motor polyneuropathy, and nonspecific neuroimaging abnormalities. Review of 63 previously reported cases of GAN indicated unique kinky hair, gait problem, hyporeflexia/areflexia, and sensory impairment were the most commonly reported clinical features. Conclusions One homozygous nonsense variant and one homozygous missense variant in the GAN gene were discovered for the first time in two unrelated Iranian families that expand the mutation spectrum of GAN. Imaging findings are nonspecific, but the electrophysiological study in addition to history is helpful to achieve the diagnosis. The molecular test confirms the diagnosis.

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Section: Discussionmentioning

confidence: 99%

Expanding the genetic spectrum of giant axonal neuropathy: Two novel variants in Iranian families

Ashrafi

Dehnavi

Tavasoli

et al. 2023

Molec Gen & Gen Med

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“…Another disease that should be considered in the differential diagnosis is chronic inflammatory polyneuropathy disease (CIPD) with similar clinical findings of neuropathy, progressive progression, and EMG findings. 26 Griscelli syndrome is a rare autosomal recessive disease with three different subtypes.…”

Section: Discussionmentioning

confidence: 99%

Evaluation of hair structural abnormalities in children with different neurological diseases

Sevinç¹,

Işıkay²

2022

Turk J Pediatr

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Background. Hair microscopy is a fast and effortless diagnostic method for many diseases affecting hair in daily practice. Many diseases can present with hair shaft disorders in pediatric neurology practice. Methods. Children with pathological hair findings were included in our study. Microscopic evaluation of the hair was performed under light microscopy. The clinical findings, pathological hair shaft findings, laboratory tests, and final diagnosis of the patients were evaluated. Results. In our study, 16 patients with rare pathological hair findings were identified. Of these 16 patients, nine were diagnosed with giant axonal neuropathy, three with Griscelli syndrome, two with Menkes disease, and two with autosomal recessive woolly hair disease. In hair inspection, curly and tangled hair in patients with giant axonal neuropathy; silvery blond hair in patients with Griscelli syndrome; sparse, coarse, and light-colored hair in patients with Menkes disease; and hypotrichosis in patients with autosomal recessive woolly hair were remarkable findings. Dystrophic hair was detected in most of the patients on light microscopy. In addition, signs of trichorrhexis nodosa, tricoptylosis, and pili torti were found. In particular, pigment deposition in the hair shaft of two patients diagnosed with Griscelli syndrome and pili torti findings in two patients with Menkes disease were the most important findings suggestingthe diagnosis. Conclusions. Detection of hair findings in the physical examination and performing light microscopic evaluation facilitates the diagnosis of rare diseases accompanied by hair findings. A hair examination should be performed as a part of physical and neurological examinationson eachpatient regardless of thecomplaint.

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“…It is characterized by the presence of oversized axons [ 1 , 2 ]. The genetic mutation responsible for GAN can be located on chromosome 16q24.1 within the GAN gene [ 3 ]. Initial clinical symptoms typically appear around the age of four, progressing in severity throughout the early 20s and often leading to premature death in the second or third decade of life [ 1 , 4 ].…”

Section: Introductionmentioning

confidence: 99%

“…Initial clinical symptoms typically appear around the age of four, progressing in severity throughout the early 20s and often leading to premature death in the second or third decade of life [ 1 , 4 ]. This condition results in sensorimotor polyneuropathy, which manifests in various neurological abnormalities including distal muscle weakness, muscle atrophy, sensory deficits, loss of deep tendon reflexes, and difficulties with walking and maintaining posture [ 1 , 3 ]. Additionally, individuals with GAN may also experience oculomotor and facial cranial nerve dysfunction [ 1 , 4 ].…”

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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Giant axonal neuropathy: A differential diagnosis of consideration

Cited by 5 publications

References 11 publications

Expanding the genetic spectrum of giant axonal neuropathy: Two novel variants in Iranian families

Expanding the genetic spectrum of giant axonal neuropathy: Two novel variants in Iranian families

Evaluation of hair structural abnormalities in children with different neurological diseases

Giant Axonal Neuropathy: A Case Report of Subclinical Childhood Manifestations

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