A likely pathogenic variant in the <i><scp>SLC</scp>20A2</i> gene presenting with progressive myoclonus

Lamquet, Simon; Ramos, Eliana Marisa; Legati, Andrea; Coppola, Giovanni; Hemelsoet, Dimitri; Vanakker, Olivier

doi:10.1002/acn3.702

Cited by 3 publications

(3 citation statements)

References 17 publications

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“…A progressive myoclonus phenotype has been reported by Lamquet et al in a patient bearing a likely pathogenic variant in SLC20A2 [15]. However the authors did not specify whether the myoclonus was cortical, subcortical or spinal in origin.…”

Section: Discussionmentioning

confidence: 91%

Cortical myoclonus and epilepsy in a family with a new SLC20A2 mutation

et al. 2020

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Idiopathic basal ganglia calcification (IBGC) or primary familial brain calcification is a rare genetic condition characterized by an autosomal dominant inheritance pattern and the presence of bilateral calcifications in the basal ganglia, thalami, cerebellum and cerebral subcortical white matter. The syndrome is genetically and phenotypically heterogeneous. Causal mutations have been identified in four genes: SLC20A2, PDGFRB, PDGFB and XPR1. A variety of progressive neurological and psychiatric symptoms have been described, including cognitive impairment, movement disorders, bipolar disorder, chronic headaches and migraine, and epilepsy. Here we describe a family with a novel SLC20A2 mutation mainly presenting with neurological symptoms including cortical myoclonus and epilepsy. While epilepsy, although rare, has been reported in patients with IBGC associated with SLC20A2 mutations, cortical myoclonus seems to be a new manifestation.

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Section: Discussionmentioning

confidence: 91%

Cortical myoclonus and epilepsy in a family with a new SLC20A2 mutation

et al. 2020

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“…The missense variant in SLC20A2 is localized in one of the cytosolic domains of the PiT2 protein and is predicted to be damaging by 10 out of 11 different in silico functional prediction tools (data not shown). Since the mutation was found in other two patients showing cerebral calcifications [ 10 , 11 ], it can be classified as “likely pathogenic” according to the ACMG guidelines [ 12 ].…”

Section: Resultsmentioning

confidence: 99%

“…Unfortunately, segregation analysis was not possible in this family as no other family members performed a brain CT scan and genetic testing. The p.R181W variant has been previously reported in 2 PFBC patients with different clinical presentations: a subject presenting with progressive myoclonus, associated to neuropsychiatric symptoms, cramps, and fasciculations (in the absence of significant EMG findings) [ 11 ] and a patient showing progressive involuntary movements, neuropathic pain, and chronic headache with a positive family history [ 4 ]. In both cases, the possible pathogenicity was only hypothesized.…”

Section: Discussionmentioning

confidence: 99%

Expanding the genetic spectrum of primary familial brain calcification due to SLC2OA2 mutations: a case series

et al. 2021

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Primary familial brain calcification (PFBC) is a neurological condition characterized by the presence of intracranial calcifications, mainly involving basal ganglia, thalamus, and dentate nuclei. So far, six genes have been linked to this condition: SLC20A2, PDGFRB, PDGFB, and XPR1 inherited as autosomal-dominant trait, while MYORG and JAM2 present a recessive pattern of inheritance. Patients mainly present with movement disorders, psychiatric disturbances, and cognitive decline or are completely asymptomatic and calcifications may represent an occasional finding. Here we present three variants in SLC20A2, two exonic and one intronic, which we found in patients with PFBC associated to three different clinical phenotypes. One variant is novel and two were already described as variants of uncertain significance. We confirm the pathogenicity of these three variants and suggest a broadening of the phenotypic spectrum associated with mutations in SLC20A2.

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Basal ganglia calcifications (Fahr’s syndrome): related conditions and clinical features

et al. 2019

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Basal ganglia calcifications could be incidental findings up to 20% of asymptomatic patients undergoing CT or MRI scan. The presence of neuropsychiatric symptoms associated with bilateral basal ganglia calcifications (which could occur in other peculiar brain structures, such as dentate nuclei) identifies a clinical picture defined as Fahr's Disease. This denomination mainly refers to idiopathic forms in which no metabolic or other underlying causes are identified. Recently, mutations in four different genes (SLC20A2, PDGFRB, PDGFB, and XPR1) were identified, together with novel mutations in the Myogenic Regulating Glycosylase gene, causing the occurrence of movement disorders, cognitive decline, and psychiatric symptoms. On the other hand, secondary forms, also identified as Fahr's syndrome, have been associated with different conditions: endocrine abnormalities of PTH, such as hypoparathyroidism, other genetically determined conditions, brain infections, or toxic exposure. The underlying pathophysiology seems to be related to an abnormal calcium/phosphorus homeostasis and transportation and alteration of the blood-brain barrier.

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A likely pathogenic variant in the SLC20A2 gene presenting with progressive myoclonus

Cited by 3 publications

References 17 publications

Cortical myoclonus and epilepsy in a family with a new SLC20A2 mutation

Cortical myoclonus and epilepsy in a family with a new SLC20A2 mutation

Expanding the genetic spectrum of primary familial brain calcification due to SLC2OA2 mutations: a case series

Basal ganglia calcifications (Fahr’s syndrome): related conditions and clinical features

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