Corrigendum to ‘Hypotonic Infant with PURA Syndrome-related Channelopathy Successfully Treated with Pyridostigmine’ Neuromuscular Disorders Volume 32, Issue 2, February 2022, Pages 166-169

Wyrebek, Rita; Bartolomeo, Mara Di; Brooks, Sandra E.; Geller, Thomas J.; Crenshaw, Melissa; Iyadurai, Stanley

doi:10.1016/j.nmd.2022.06.008

Cited by 2 publications

(11 citation statements)

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“…We included altogether 193 PURA-related neurodevelopmental disorder (PURA-NDD) patients; among them, 10 with 5q31.3 microdeletion syndrome and 183 with point variants in PURA locus only from 27 studies [6][7][8][9][34][35][36][38][39][40][41][42][43][44][45][46][47][48][49][50][51][52][53][54][55][56][57]. The biggest study contained 67 participants, and there were 17 single case reports included.…”

Section: Resultsmentioning

confidence: 99%

“…In three cases there were either no reflexes or weak reflexes that during the disease course progressed to normal [7] or hyperreflexia [41] respectively. In one case, fluctuating DTRs have been noted [34]. In three cases, the DTR were normal.…”

Section: Motor and Neuromuscular Symptoms In Pura Syndromementioning

confidence: 87%

“…In another patient ([38] P1), weakness was reported as fluctuating, again suggesting a neuromuscular junction disorder. In most of the cases, diminished DTR has been reported [34,51]. In three cases there were either no reflexes or weak reflexes that during the disease course progressed to normal [7] or hyperreflexia [41] respectively.…”

Section: Motor and Neuromuscular Symptoms In Pura Syndromementioning

confidence: 87%

“…The Pur-alpha has been suggested to accumulate in spines secondary to the postsynaptic mGlu5-dependent cascade [20]. However, in the peripheral nervous system PURA localization has never been confirmed with staining, although electrophysiological studies suggest mixed pre-and postsynaptic localization [34]. The protein localization and its interaction partners in the synapses could help identify potential treatment options.…”

Section: Pura's Role In the Musclementioning

confidence: 99%

“…However, the neuromuscular and synaptic weakness have been more appreciated recently (Figure 2). Especially, in a few cases, the weakness has been described as very severe (paralytic) (e.g., [51], p. 2, [34]). These children were tested at the first instance for SMA in the neonatal period but resulted negative.…”

Section: Motor and Neuromuscular Symptoms In Pura Syndromementioning

confidence: 99%

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Neuromuscular and Neuromuscular Junction Manifestations of the PURA-NDD: A Systematic Review of the Reported Symptoms and Potential Treatment Options

Mroczek

Iyadurai

2023

IJMS

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PURA-related neurodevelopmental disorders (PURA-NDDs) are a rare genetic disease caused by pathogenic autosomal dominant variants in the PURA gene or a deletion encompassing the PURA gene. PURA-NDD is clinically characterized by neurodevelopmental delay, learning disability, neonatal hypotonia, feeding difficulties, abnormal movements, and epilepsy. It is generally considered to be central nervous system disorders, with generalized weakness, associated hypotonia, cognitive and development deficits in early development, and seizures in late stages. Although it is classified predominantly as a central nervous syndrome disorder, some phenotypic features, such as myopathic facies, respiratory insufficiency of muscle origin, and myopathic features on muscle biopsy and electrodiagnostic evaluation, point to a peripheral (neuromuscular) source of weakness. Patients with PURA-NDD have been increasingly identified in exome-sequenced cohorts of patients with neuromuscular- and congenital myasthenic syndrome-like phenotypes. Recently, fluctuating weakness noted in a PURA-NDD patient, accompanied by repetitive nerve stimulation abnormalities, suggested the disease to be a channelopathy and, more specifically, a neuromuscular junction disorder. Treatment with pyridostigmine or salbutamol led to clinical improvement of neuromuscular function in two reported cases. The goal of this systematic retrospective review is to highlight the motor symptoms of PURA-NDD, to further describe the neuromuscular phenotype, and to emphasize the role of potential treatment opportunities of the neuromuscular phenotype in the setting of the potential role of PURA protein in the neuromuscular junction and the muscles.

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Section: Resultsmentioning

confidence: 99%

Section: Motor and Neuromuscular Symptoms In Pura Syndromementioning

confidence: 87%

Section: Motor and Neuromuscular Symptoms In Pura Syndromementioning

confidence: 87%

Section: Pura's Role In the Musclementioning

confidence: 99%

Section: Motor and Neuromuscular Symptoms In Pura Syndromementioning

confidence: 99%

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Neuromuscular and Neuromuscular Junction Manifestations of the PURA-NDD: A Systematic Review of the Reported Symptoms and Potential Treatment Options

Mroczek

Iyadurai

2023

IJMS

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Heterozygous c.175C>T variant in PURA gene causes severe developmental delay

Noda,

Kido,

Misumi

et al. 2023

Clinical Case Reports

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Key Clinical MessageThis case report presents a child with PURA‐related neurodevelopmental disorder, caused by the heterozygous pathogenic variant c.175C>T (p.Gln59*). The clinical symptoms included microcephaly, brachygnathia, central and peripheral hypotonia, and developmental delay (non‐verbal), among others. On comparison with published literature, even patients with the same mutation present different clinical symptoms.AbstractThis case report presents a child with PURA‐related neurodevelopmental disorder, caused by the heterozygous pathogenic variant c.175C>T (p.Gln59*), whose symptoms included microcephaly, brachygnathia, the development of a high anterior hairline, hip dysplasia, strabismus, severe hypotonia, developmental delay (non‐meaningful verbal), feeding difficulties, and respiratory difficulties. His development ceased with age, such that his development at 10 years corresponded to an infant of 6 months. Moreover, even patients with the same variant can have different clinical symptoms, such as the presence or absence of epilepsy or congenital malformations. Therefore, we should follow his long‐term clinical course and provide medical support as necessary.

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Corrigendum to ‘Hypotonic Infant with PURA Syndrome-related Channelopathy Successfully Treated with Pyridostigmine’ Neuromuscular Disorders Volume 32, Issue 2, February 2022, Pages 166-169

Cited by 2 publications

References 0 publications

Neuromuscular and Neuromuscular Junction Manifestations of the PURA-NDD: A Systematic Review of the Reported Symptoms and Potential Treatment Options

Neuromuscular and Neuromuscular Junction Manifestations of the PURA-NDD: A Systematic Review of the Reported Symptoms and Potential Treatment Options

Heterozygous c.175C>T variant in PURA gene causes severe developmental delay

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