Clinical, electrophysiological and genetic characteristics of childhood hereditary polyneuropathies

Paketçi, Cem; Karakaya, Mert; Edem, Pınar; Bayram, Erhan; Keller, Natalie; Daimagüler, Hülya‐Sevcan; Çırak, Sebahattin; Jordanova, Albena; Hız, Semra; Wirth, Brunhilde; Yış, Uluç

doi:10.1016/j.neurol.2020.04.016

Cited by 4 publications

(5 citation statements)

References 21 publications

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“…5 Cerebellar atrophy and vermis atrophy were frequently reported MRI findings in the literature, along with cerebral atrophy, spinal cord atrophy, basal ganglia involvement, corpus callosum hyperintensity, and other abnormalities. 4,5,[7][8][9][10][11][12][13][14][15] Even while some patients' MRI results might be normal or show mild atrophy, such as our first patient, these changes might be time dependent and atrophy might occur and progress over the course of the illness. 4,5,[8][9][10][11] This neurodegenerative disease was also described in five adult patients.…”

Section: Discussionmentioning

confidence: 87%

“…We identified 12 articles describing 47 patients with ADPRHL2/ADPRS/ARH3 mutation during the literature search. 4,5,[7][8][9][10][11][12][13][14][15][16] Of these studies, two were large reports in which the disease was first described (n ¼ 16, and n ¼ 12 respectively), three were single-case reports, three were letters involving four patients, and four were original/research article involving 12 patients. Characteristics of the ADPRHL2/ADPRS/ARH3 mutation found in the literature up to February 3rd, 2023 and our cases are summarized in ►Table 1.…”

Section: Results Of the Systematic Reviewmentioning

confidence: 99%

“…The age of clinical onset of our two patients along with the five previously reported patients was as follows: 18 months, 20 months, 27 months, 30 months, 3.5 years, 4 years, and 7.5 years. 4,7,14 No other missense variants but c.235C > A have been described in exon 2 so far. However, a frameshift variant (c.292delG) has been described in exon 2 in two other patients with age at clinical onset of 14 and 15 years.…”

Section: Discussionmentioning

confidence: 99%

“…Our patients in line with the so far reported patients, clinically evolved from episodic ataxia to a neurodegenerative course with central hypoventilation syndrome, further complicated by multisystemic involvement including endocrine dysfunction. Patients with ADPRHL2 variants can show a wide clinical phenotype at different age groups and different prognoses from progressive fatal course in childhood to a static course with survival up to third decade in adulthood 4,5,[7][8][9][10][11][12][13][14][15][16] (►Table 1). A clear genotype-phenotype correlation is quite challenging to establish based on current knowledge.…”

Section: Discussionmentioning

confidence: 99%

“…Interestingly, the same homozygous variant, c.235C > A in ADPRHL2 was previously reported in five different Turkish patients. 4,7,14 The identification of the same variant in seven unrelated families might be due to a probable founder effect in Turkish population, a country with a high consanguineous marriage rate. 18 Expression of this missense variant in Escherichia coli demonstrated that it caused protein destabilization, suggesting that the missense variants may have a loss-of-function effect.…”

Section: Discussionmentioning

confidence: 99%

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Delineation of ADPRHL2 Variants: Report of Two New Patients with Review of the Literature

Öz Yıldız,

Yalnızoğlu,

Şimsek Kiper

et al. 2024

Neuropediatrics

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ADPRHL2 is involved in posttranslational modification and is known to have a role in physiological functions such as cell signaling, DNA repair, gene control, cell death, and response to stress. Recently, a group of neurological disorders due to ADPRHL2 variants is described, characterized by childhood-onset, stress-induced variable movement disorders, neuropathy, seizures, and neurodegenerative course. We present the diagnostic pathway of two pediatric patients with episodic dystonia and ataxia, who later had a neurodegenerative course complicated by central hypoventilation syndrome due to the same homozygous ADPRHL2 variant. We conducted a systematic literature search and data extraction procedure following the Preferred Reporting Items for Systematic Review and Meta-Analysis 2020 statement in terms of patients with ADPRHL2 variants, from 2018 up to 3 February, 2023. In total, 12 articles describing 47 patients were included in the final analysis. Median age at symptom onset was 2 (0.7–25) years, with the most common presenting symptoms being gait problems (n = 19, 40.4%), seizures (n = 16, 34%), ataxia (n = 13, 27.6%), and weakness (n = 10, 21.2%). Triggering factors (28/47; 59.5%) and regression (28/43; 60.4%), axonal polyneuropathy (9/23; 39.1%), and cerebral and cerebellar atrophy with white matter changes (28/36; 77.7%) were the other clues. The fatality rate and median age of death were 44.6% (n = 21) and 7 (2–34) years, respectively. ADPRHL2 variants should be considered in the context of episodic, stress-induced pediatric and adult-onset movement disorders and seizures.

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Section: Discussionmentioning

confidence: 87%

Section: Results Of the Systematic Reviewmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

See 3 more Smart Citations

Delineation of ADPRHL2 Variants: Report of Two New Patients with Review of the Literature

Öz Yıldız,

Yalnızoğlu,

Şimsek Kiper

et al. 2024

Neuropediatrics

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Genomic variants causing mitochondrial dysfunction are common in hereditary lower motor neuron disease

et al. 2021

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Hereditary lower motor neuron diseases (LMND) other than 5q‐spinal muscular atrophy (5q‐SMA) can be classified according to affected muscle groups. Proximal and distal forms of non‐5q‐SMA represent a clinically and genetically heterogeneous spectrum characterized by significant overlaps with axonal forms of Charcot–Marie–Tooth (CMT) disease. A consensus for the best approach to molecular diagnosis needs to be reached, especially in light of continuous novel gene discovery and falling costs of next‐generation sequencing (NGS). We performed exome sequencing (ES) in 41 families presenting with non‐5q‐SMA or axonal CMT, 25 of which had undergone a previous negative neuromuscular disease (NMD) gene panel analysis. The total diagnostic yield of ES was 41%. Diagnostic success in the cohort with a previous NMD‐panel analysis was significantly extended by ES, primarily due to novel gene associated‐phenotypes and uncharacteristic phenotypic presentations. We recommend early ES for individuals with hereditary LMND presenting uncharacteristic or significantly overlapping features. As mitochondrial dysfunction was the underlying pathomechanism in 47% of the solved individuals, we highlight the sensitivity of the anterior horn cell and peripheral nerve to mitochondrial imbalance as well as the necessity to screen for mitochondrial disorders in individuals presenting predominant lower motor neuron symptoms.

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A novel mutation in HINT1 gene causes autosomal recessive axonal neuropathy with neuromyotonia, effective treatment with carbamazepine and review of the literature

Wang

et al. 2022

Acta Neurol Belg

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Clinical, electrophysiological and genetic characteristics of childhood hereditary polyneuropathies

Cited by 4 publications

References 21 publications

Delineation of ADPRHL2 Variants: Report of Two New Patients with Review of the Literature

Delineation of ADPRHL2 Variants: Report of Two New Patients with Review of the Literature

Genomic variants causing mitochondrial dysfunction are common in hereditary lower motor neuron disease

A novel mutation in HINT1 gene causes autosomal recessive axonal neuropathy with neuromyotonia, effective treatment with carbamazepine and review of the literature

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