Preface: promoting research in PLS: current knowledge and future challenges

Mitsumoto, Hiroshi; Turner, Martin R.; Ajroud‐Driss, Senda; Andres, Patricia L.; Andrews, Jinsy; Area‐Gómez, Estela; Atehortúa, Juan Marcos Solano; Babu, Suma; Barohn, Richard J.; Bede, Peter; Benatar, Michael; Chew, Sheena; Conwit, Robin; Corcia, Philippe; Cudkowicz, Merit; Davis, Frank; Carvalho, Mamede de; Drory, Vivian E.; Elman, Lauren; Factor-Litvak, Pam; Fernandes, J. Americo; Ferrey, Dominic; Finegan, Eoin; Fink, John K.; Floeter, Mary Kay; Fournier, Christina; Genge, Angela; Govindarajan, Raghav; Granit, Volkan; Haase, Georg; Hardiman, Orla; Harms, Matthew B.; Hayat, Ghazala; Heiman‐Patterson, Terry; Hill, Bryan; Hübers, Annemarie; Huey, Edward D.; Jawdat, Omar; Kano, Osamu; Kau, Kristen; Kiernan, Matthew C.; Kisanuki, Yasushi; Kurent, Jerome E.; Kwan, Justin; Lange, Dale J.; Ludolph, Albert C.; Manfredi, Giovanni; Marren, David; Family, and; Morita, Mitsuya; Murphy, Jennifer; Nations, Sharon P.; Oskarsson, Björn; Paganoni, Sabrina; Pellerin, David; Ravits, John; Rezania, Kourosh; Rouleau, Guy A.; Scelsa, Stephen N.; Siddique, Teepu; Siddique, Nailah; Silani, Vincenzo; Simmons, Zachary; Statland, Jeffrey; Traynor, Bryan J.; Blitterswijk, Marka van; Berg, Leonard van den; Walk, David; Warden, Deborah L.; Wymer, James P.

doi:10.1080/21678421.2020.1840795

Cited by 5 publications

(4 citation statements)

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“…40 41 42 43 44 45 46 47 48 These molecularly complex disorders may include a variety of monogenic as well as polygenic/genetically complex conditions with increasingly widened molecular heterogeneity and implicating a wide array of disease mechanisms that could potentially affect brain development. 49 50 51 52 53 54 55 56…”

Section: Introductionmentioning

confidence: 99%

“…[40][41][42][43][44][45][46][47][48] These molecularly complex disorders may include a variety of monogenic as well as polygenic/genetically complex conditions with increasingly widened molecular heterogeneity and implicating a wide array of disease mechanisms that could potentially affect brain development. [49][50][51][52][53][54][55][56] Although several genetic mechanisms are involved in the pathogenesis of JS, [57][58][59][60][61][62] the abovementioned neuroradiological characteristics are exclusively reported in JS. Moreover, other syndromes with posterior-fossa malformations, including Dekaban-Arima, Senior-Löken and cerebellar vermis hypoplasia/aplasia, oligophrenia, ataxia, coloboma and hepatic fibrosis (COACH), frequently lead to diagnostic dilemmas.…”

Section: Introductionmentioning

confidence: 99%

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Radiological Features of Joubert's Syndrome

Stroscio

Cuppari

Ceravolo

et al. 2023

Journal of Pediatric Neurology

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Joubert syndrome (JS) is a rare autosomal recessive disorder. All patients affected by this syndrome presented a characteristic picture of cranial fossa malformations, called “molar tooth sign.” This sign is defined by the presence in axial section at the level of a deck/midbrain, of hypo/dysplasia of the cerebellar vermis, abnormally deep interpeduncular fossa and horizontalized thickened and elongated superior cerebellar peduncles. Although “molar tooth sign” is peculiar of JS, other radiological findings have been also reported in these patients. Here, the authors briefly assumed the principal magnetic resonance imaging findings of JS.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Radiological Features of Joubert's Syndrome

Stroscio

Cuppari

Ceravolo

et al. 2023

Journal of Pediatric Neurology

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“…[31][32][33][34][35][36][37][38] This led to a better understanding of the subcellular alterations underlying diseases, including several regulatory networks and genetic together with non-genetic factors. [39][40][41][42][43][44][45] With the exception of rare X-linked recessive cases, JSRD follow autosomal recessive inheritance and are genetically heterogeneous. JSRD are classified in six phenotypic subgroups: pure JS; JS with ocular defect; JS with renal defect; JS with oculorenal defects; JS with hepatic defect; and JS with orofaciodigital defects (►Fig.…”

Section: Introductionmentioning

confidence: 99%

An Overview of Genes Involved in the Pure Joubert Syndrome and in Joubert Syndrome-Related Disorders (JSRD)

Amorini

Iapadre

Mancuso

et al. 2023

Journal of Pediatric Neurology

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Joubert syndrome (JS) is a rare autosomal recessive disease characterized by a peculiar brain malformation, hypotonia, ataxia, developmental delay, abnormal eye movements, and neonatal breathing abnormalities. This picture is often associated with variable multiorgan involvement, mainly of the retina, kidneys and liver, defining a group of conditions termed syndrome and Joubert syndrome-related disorders (JSRD). Currently, more than 30 causative genes have been identified, involved in the development and stability of the primary cilium. Correlations genotype–phenotype are emerging between clinical presentations and mutations in JSRD genes, with implications in terms of molecular diagnosis, prenatal diagnosis, follow-up, and management of mutated patients.

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“…Non-ALS motor neuron diseases have received relatively limited research attention in the past, despite their notable quality-of-life ramifications. The new consensus diagnostic criteria in PLS [54] has given particular impetus to PLS research [55][56][57], where extramotor changes [58,59] and frontotemporal dysfunction is increasingly recognized [60]. Ultimately, the study of non-ALS motor neuron diseases or 'restricted phenotypes' offers important methodological and conceptual lessons and these patients may also serve as 'disease controls' for ALS studies.…”

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confidence: 99%

Preface: promoting research in PLS: current knowledge and future challenges

Cited by 5 publications

References 0 publications

Radiological Features of Joubert's Syndrome

Radiological Features of Joubert's Syndrome

An Overview of Genes Involved in the Pure Joubert Syndrome and in Joubert Syndrome-Related Disorders (JSRD)

Editorial: The gap between academic advances and therapy development in motor neuron disease

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