Mutations in tubulin genes can have a severe impact on microtubule function and result in heterogeneous clinical presentations. [karger.com]

[…] rare disease Polymicrogyria Disease definition Polymicrogyria (PMG) is a heterogenous group of cerebral cortical malformations characterized by excessive cortical folding and abnormal cortical layering that, depending on its topographic distribution, presents [orpha.net]

In more severe forms, focal, motor, sensory, visual, or cognitive problems may be present, depending on the brain region affected. [blueprintgenetics.com]

PtdIns3,5P2 is the rarest amongst the seven different PtdIns’s and is only present on the outside of endosomes. It is generated by a single molecule named PIKfyve, the Phosphoinositide kinase with a FYVE domain. [epilepsygenetics.net]

Olfactory sulci and bulbs were present in 2/3 foetuses and optic nerves were normal in all cases. [link.springer.com]

• Hyperthermia

  […] dystrophy-dystroglycanopathy PPIB Osteogenesis imperfecta type 2, Osteogenesis imperfecta type 3, Osteogenesis imperfecta type 4 PYCR1 Cutis laxa AR type 2B RAPSN Myasthenic syndrome, congenital RYR1 Central core disease, Centronuclear myopathy, Malignant hyperthermia [genda.com.ar]

• Muscular Atrophy

  He is currently involved in multiple clinical trials of novel genetic interventions for the treatment of spinal muscular atrophy and Duchenne muscular dystrophy. [books.google.com]

  atrophy, Spondyloepiphyseal dysplasia Maroteaux type, Spondylometaphyseal dysplasia Kozlowski type WISP3 Arthropathy, progressive pseudorheumatoid, of childhood, Spondyloepiphyseal dysplasia tarda with progressive arthropathy ACP5 Spondyloenchondrodysplasia [genda.com.ar]

• Cryptorchidism

  Clinical features include fetal akinesia, intrauterine growth retardation, polyhydramnios, arthrogryposis, pulmonary hypoplasia, craniofacial abnormalities, and cryptorchidism. [ghr.nlm.nih.gov]

  Destructive brain lesions Ocular * Chorioretinal atrophy * Optic nerve abnormalities * Maculopathies * Vascular abnormalities Musculoskeletal * Arthrogryposis * Craniofacial abnormalities (craniosynostosis) * Clubfoot * Acetabular dysplasia Genitourinary * Cryptorchidism [medical-dictionary.thefreedictionary.com]

  Clinical features include fetal akinesia, intrauterine growth retardation, polyhydramnios, arthrogryposis, pulmonary hypoplasia, craniofacial abnormalities, and cryptorchidism. {ECO:0000269 PubMed:26732629}. [genecards.org]

• Stroke

  She has a special interest in neonatal stroke and brain plasticity. Her work has been published in 400 publications. [books.google.com]

  Saundersfoot Medical Centre Skewen Medical Centre South East Wales Cancer Network South West Wales Cancer Network Speech & Language Therapists (Wales) - Autism St Mark's Dee View Surgery St Thomas and West Cross Surgeries St Thomas Surgery (Pembrokeshire) Stroke [wales.nhs.uk]

  This causes problems with functioning in the body much like how the effects of a stroke can affect the brain. The impairments that are seen as a result of PMG depend on what part of the brain is involved and how severe the deformity is. [pmgawareness.org]

  Funding Sources This work was supported by the Intramural Research Program of the National Institutes of Health (National Institute of Neurological Disorders and Stroke; project No.: NS003154). [karger.com]

  […] imaging at 7T can visualize small anatomic structures not previously appreciated at lower fields. 25 – 28 Because 7T MR imaging has already provided diagnostic benefits in different pathologies 28 such as multiple sclerosis, 29 cerebrovascular diseases (strokes [ajnr.org]

• Meningism

  There is diffuse disorganization of the cortical plate with massive overmigration of cells within the meningeal spaces (I). From: Tubulinopathies Overview Copyright 1993-2019, University of Washington, Seattle. [ncbi.nlm.nih.gov]

  Third, focal neuroglial ectopias into the meningeal spaces are often observed, indicating that tubulinopathies result from both abnormal lamination and overmigration through a defective glia limitans. [link.springer.com]

• Generalized Tonic-Clonic Seizure

  A female infant developed epilepsy on the day of birth, exhibiting epileptic spasms, generalized tonic-clonic seizures, and eye-deviating seizures. She had a history of clusters of tonic seizures. [ncbi.nlm.nih.gov]

  At age 30 years, she had her first generalized, tonic-clonic seizure. She was started on 750 mg of levetiracetam 2 times daily for seizure prophylaxis, and remains seizure free. [karger.com]

He is currently involved in multiple clinical trials of novel genetic interventions for the treatment of spinal muscular atrophy and Duchenne muscular dystrophy. [books.google.com]

Treatment and management of PMG depend on the needs of the individual. Commonly used, but not limited too, are physical therapy for gross motor impairment, orthotic devices and surgery for those with spastic motor impairment. [pmgawareness.org]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

10: Q04.8 MeSH: D054220 OMIM: 606854 615752 300388 610031 613180 614833 612691 616531 Reference PMID: 18262290 Authors Guerrini R, Dobyns WB, Barkovich AJ Title Abnormal development of the human cerebral cortex: genetics, functional consequences and treatment [genome.jp]

There is no specific treatment to get rid of this condition, but there are medications that can control the symptoms such as seizures, delayed development or weakened muscles as some of the noted effects. [en.wikipedia.org]

Diffuse bilateral polymicrogyria (DBP) is related to poor epilepsy prognosis, but most patients with DBP are not good candidates for resective epilepsy surgery and effectiveness of corpus callosotomy (CC), a palliative surgery, for patients without resective [ncbi.nlm.nih.gov]

Prognosis is developmental arrest at P3-5 mos. Fatal by age 2 on average for MDS, by age 10 for ILS, usually due to pneumonia. [www2.gsu.edu]

Though it is difficult to make a predictable prognosis for children with the diagnosis of PMG, there are some generalized clinical findings according to the areas of the brain that are affected. [ipfs.io]

[…] usually present not present (MSGP is usually isolated) Prognosis [ edit ] Microlissencephaly usually leads to an early fatal outcome during the neonatal period. [28] Epidemiology [ edit ] Microlissencephaly is listed in Orphanet database as a rare disease [en.wikipedia.org]

However gross analysis shows an infected patient can have as little as one to all six of these layers missing. [4] Etiology The etiology of polymicrogyria is unclear. [ipfs.io]

Polymicrogyria can result from both genetic and environmental etiologies. It can occur as an isolated event, or as a symptom or part of other brain abnormalities. [pmgawareness.org]

These clinical features might have characterized a subpopulation with a specific subtype of polymicrogyria or a specific etiology, which is certainly not representative of the larger population of individuals with polymicrogyria, in which varied etiologic [ajnr.org]

These observations suggest that the etiology for the neurological features must also be due to genes located proximal to SHANK3. [symbiosisonlinepublishing.com]

Missense mutations in the absence of nonsense mutations, frameshifts, or genomic deletions support altered protein function, rather than haploinsufficiency, as the primary genetic etiology of these tubulin-related disorders[ 28 ]. [bmcresnotes.biomedcentral.com]

[15] There is not much information available about the epidemiology of microlissencepahly in literature. [en.wikipedia.org]

Genetic epidemiology and nonsyndromic structural birth defects: from candidate genes to epigenetics. JAMA pediatrics, 168(4), 371-377. Parker SE, Mai CT, Canfield MA, Rickard R, Wang Y, Meyer RE, Correa A (2010). [centogene.com]

Pathophysiology [ edit ] The genetic basis and pathophysiology of microlissencephaly are still not completely understood. [19] Most cases of microlissencephaly are described in consanguineous families suggesting an autosomal recessive inheritance. [7] [en.wikipedia.org]

Until recently, the different possible pathophysiological mechanisms underlying microlissencephaly remained poorly understood. [link.springer.com]

PubMed PubMed Central View Article Google Scholar Friocourt G, Marcorelles P, Saugier-Veber P, Quille ML, Marret S, Laquerriere A: Role of cytoskeletal abnormalities in the neuropathology and pathophysiology of type I lissencephaly. [bmcresnotes.biomedcentral.com]

The principal focus of his research has been elucidation of the pathogenesis of the major forms of brain injury in the newborn, and prevention of this injury. [books.google.com]

RELATED : Grant : Fondazione Cassa di Risparmio Pisa, Pisa, Italy (Project 133/11)*; European Union Seventh Framework Programme FP7/2007–2013 under the project DESIRE (Development and Epilepsy: Strategies for Innovative Research to improve diagnosis, prevention [ajnr.org]