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leukodystrophy mri

David S Lynch, Wei Jia Zhang, Rahul Lakshmanan, Justin A Kinsella, Günes Altiokka Uzun, Merih Karbay, Zeynep Tüfekçioglu, Hasmet Hanagasi, Georgina Burke, Nicola Foulds, Simon R Hammans, Anupam Bhattacharjee, Heather Wilson, Matthew Adams, Mark Walker, James A R Nicoll, Jeremy Chataway, Nick Fox, Indran Davagnanam, Rahul Phadke, Henry Houlden
Importance: Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a frequent cause of adult-onset leukodystrophy known to be caused by autosomal dominant mutations in the CSF1R (colony-stimulating factor 1) gene. The discovery that CSF1R mutations cause ALSP led to more accurate prognosis and genetic counseling for these patients in addition to increased interest in microglia as a target in neurodegeneration. However, it has been known since the discovery of the CSF1R gene that there are patients with typical clinical and radiologic evidence of ALSP who do not carry pathogenic CSF1R mutations...
October 17, 2016: JAMA Neurology
Yu Kobayashi, Jun Tohyama, Tomoyuki Akiyama, Shinichi Magara, Hideshi Kawashima, Noriyuki Akasaka, Mitsuko Nakashima, Hirotomo Saitsu, Naomichi Matsumoto
Cerebral folate deficiency due to folate receptor 1 gene (FOLR1) mutations is an autosomal recessive disorder resulting from a brain-specific folate transport defect. It is characterized by late infantile onset, severe psychomotor regression, epilepsy, and leukodystrophy. We describe a consanguineous girl exhibiting severe developmental regression, intractable epilepsy, polyneuropathy, and profound hypomyelination with cortical involvement. Magnetic resonance imaging showed cortical disturbances in addition to profound hypomyelination and cerebellar atrophy...
October 12, 2016: Brain & Development
Laszlo Szpisjak, Nora Zsindely, Jozsef I Engelhardt, Laszlo Vecsei, Gabor G Kovacs, Peter Klivenyi
AARS2 gene (NM_020745.3) mutations result in two different phenotypic diseases: infantile mitochondrial cardiomyopathy and late-onset leukoencephalopathy. The patient's first symptoms appeared at the age of 18 years with behavioral changes and psychiatric problems. Some years later, extrapyramidal symptoms, cognitive impairment, nystagmus, dysarthria and pyramidal symptoms also developed. The brain magnetic resonance imaging (MRI) indicated extensive white matter abnormalities. The diagnosis of AARS2 gene mutations causing leukodystrophy was confirmed by genetic testing...
October 13, 2016: Journal of Human Genetics
Ricardo H Roda, Edmond J FitzGibbon, Houda Boucekkine, Alice B Schindler, Craig Blackstone
The MAG gene encodes myelin-associated glycoprotein (MAG), an abundant protein involved in axon-glial interactions and myelination during nerve regeneration. Several members of a consanguineous family with a clinical syndrome reminiscent of Pelizaeus-Merzbacher disease and demyelinating leukodystrophy on brain MRI were recently found to harbor a homozygous missense p.Ser133Arg MAG mutation. Here, we report two brothers from a nonconsanguineous family afflicted with progressive cognitive impairment, neuropathy, ataxia, nystagmus, and gait disorder...
August 2016: Annals of Clinical and Translational Neurology
Paramdeep Singh, Rupinderjeet Kaur
Metachromatic leukodystrophy (MLD) is caused by insufficiency of arylsulfatase A resulting in impaired myelination. Diffusion magnetic resonance (MR) imaging features of this disease have been rarely reported. We report diffusion MR imaging of MLD in a 12-month-old male who presented with regression of milestones and progressive spasticity.
April 2016: Journal of Pediatric Neurosciences
Sietske H Kevelam, Marjan E Steenweg, Siddharth Srivastava, Guy Helman, Sakkubai Naidu, Raphael Schiffmann, Susan Blaser, Adeline Vanderver, Nicole I Wolf, Marjo S van der Knaap
Leukodystrophies were defined in the 1980s as progressive genetic disorders primarily affecting myelin of the central nervous system. At that time, a limited number of such disorders and no associated gene defects were known. The majority of the leukodystrophy patients remained without a specific diagnosis. In the following two decades, magnetic resonance imaging pattern recognition revolutionized the field, allowing the definition of numerous novel leukodystrophies. Their genetic defects were usually identified through genetic linkage studies...
August 26, 2016: Neuropediatrics
Hanna Mierzewska, Magdalena Mierzewska-Schmidt, Gajja S Salomons, Magdalena Dudzińska, Elżbieta Szczepanik
Alexander Disease (ALXDRD) is an autosomal dominant leukodystrophy caused by mutation in one allele of GFAP gene, encoding glial fibrillary acidic protein (GFAP). Most cases occur due to de novo. There are three clinical subtypes of ALXDRD: infantile, juvenile and adult form, but congenital form is also outlined. The disease's spectrum comprises of macrocephaly, progressive pyramidal signs, and seizures in congenital and infantile subtypes. Neuropathologically are enormous number of Rosenthal fibers (RF) mainly around vessels, in subependymal and subpial regions are found...
April 2016: Developmental Period Medicine
Raphael Schiffmann, Brenda Banwell
No abstract text is available yet for this article.
August 23, 2016: Neurology
Florian Eichler, Eva Ratai, Jason J Carroll, Joseph C Masdeu
This chapter starts with a description of imaging of inherited metabolic disorders, followed by a discussion on imaging of acquired toxic-metabolic disorders of the adult brain. Neuroimaging is crucial for the diagnosis and management of a number of inherited metabolic disorders. Among these, inherited white-matter disorders commonly affect both the nervous system and endocrine organs. Magnetic resonance imaging (MRI) has enabled new classifications of these disorders that have greatly enhanced both our diagnostic ability and our understanding of these complex disorders...
2016: Handbook of Clinical Neurology
Samuel Groeschel, Jörn-Sven Kühl, Annette E Bley, Christiane Kehrer, Bernhard Weschke, Michaela Döring, Judith Böhringer, Johanna Schrum, René Santer, Alfried Kohlschütter, Ingeborg Krägeloh-Mann, Ingo Müller
IMPORTANCE: Allogeneic hematopoietic stem cell transplantation (HSCT) has been the only treatment option clinically available during the last 20 years for juvenile metachromatic leukodystrophy (MLD), reported with variable outcome and without comparison with the natural course of the disease. OBJECTIVE: To compare the long-term outcome of patients who underwent allogeneic HSCT with control patients who did not among a cohort with juvenile MLD. DESIGN, SETTING, AND PARTICIPANTS: Patients with juvenile MLD born between 1975 and 2009 and who received HSCT at a median age of 7 years (age range, 1...
September 1, 2016: JAMA Neurology
Zhihong Wang, Yanhong Lin, Dezhu Zheng, Aizhen Yan, Xiangdong Tu, Juan Lin, Fenghua Lan
BACKGROUND: Metachromatic leukodystrophy (MLD) is a rare inherited lysosomal storage disorder caused mainly by variants in arylsulfatase A (ARSA) gene. MLD can be divided into three major clinical forms according to the age of onset: late infantile, juvenile, and adult. We report two siblings of late infantile MLD presenting with cerebellar ataxia as the only first clinical symptom. METHODS: Because of the unspecific neurological manifestation, whole-exome sequencing (WES) was performed to find disease-causing mutations for molecular diagnosis...
September 1, 2016: Clinica Chimica Acta; International Journal of Clinical Chemistry
Naveed Mazhar, Uzma Saeed
Alexander disease, less commoniy known as fibrinoid leukodystrophy is an extremely rare, non- familial, progressive, lethal leukodystrophy which is characterized predominantly by abnormalities of white matter in bilateral frontal regions. It usually presents early within first 2 years of life with clinical features of macrocephaly, recurrent seizures and psychomotor retardation. Diagnosis of this white matter disorder is possible with certain features seen on magnetic resonance imaging (MRI), even without the need for histological confirmation...
January 2016: Journal of Ayub Medical College, Abbottabad: JAMC
A James Barkovich, Sean Deon
In recent years, the concept of hypomyelinating disorders has been proposed as a group of disorders with varying systemic manifestations that are identified by MR findings of absence or near absence of the T2 hypointensity that develops in white matter as a result of myelination. Initially proposed as a separate group because they were the largest single category of undiagnosed leukodystrophies, their separation as a distinct group that can be recognized by looking for a specific MRI feature has resulted in a marked increase in their diagnosis and a better understanding of the different causes of hypomyelination...
August 2016: Neurobiology of Disease
Ujjawal Roy, Alak Pandit, Urmila Das, Ajay Panwar
Pachygyria is considered a subtype of lissencephaly which, in turn, is a spectrum of disorders caused by abnormal neuronal migration. Clinical presentation in this disorder may be varied including microcephaly, developmental delay, facial dysmorphism, seizures, and mental retardation. Magnetic resonance imaging (MRI) of brain identifies the exact nature and extent of the disease and helps in delineating further plan of management. A Tigroid pattern on axial MRI scan and leopard pattern on a sagittal plane has been classically reported in disorders of myelin formation such as metachromatic leukodystrophy and Pelizaeus-Merzbacher disease...
2016: Journal of Clinical Imaging Science
H Mierzewska, E Jamroz, T Mazurczak, D Hoffman-Zacharska, E Szczepanik
Pelizaeus-Merzbacher disease (PMD) is X-linked hypomyelinating leukodystrophy caused by mutations of the PLP1 gene, which codes the proteolipid protein 1. The result of mutations is abnormal myelination - hypomyelination and dysmyelination of cerebral white matter, and in some form of the disease hypomyelinating peripheral neuropathy. DNA samples from 68 patients suspected of PMD due to the clinical course and hypomyelination at magnetic resonance imaging (MRI) were analyzed. Medical history and detailed clinical course of PMD patients were also analyzed...
2016: Folia Neuropathologica
Maha S Zaki, Gifty Bhat, Tipu Sultan, Mahmoud Issa, Hea-Jin Jung, Esra Dikoglu, Laila Selim, Imam G Mahmoud, Mohamed S Abdel-Hamid, Ghada Abdel-Salam, Isaac Marin-Valencia, Joseph G Gleeson
OBJECTIVE: A study was undertaken to characterize the clinical features of the newly described hypomyelinating leukodystrophy type 10 with microcephaly. This is an autosomal recessive disorder mapped to chromosome 1q42.12 due to mutations in the PYCR2 gene, encoding an enzyme involved in proline synthesis in mitochondria. METHODS: From several international clinics, 11 consanguineous families were identified with PYCR2 mutations by whole exome or targeted sequencing, with detailed clinical and radiological phenotyping...
July 2016: Annals of Neurology
E Espinosa, P R Mera-Solarte, J E Cote-Orozco
INTRODUCTION: Pelizaeus-Merzbacher disease is an infrequent hypomyelinating disorder caused by alterations in the PLP1 gene, which leads to a fault in the axonal myelination of the oligodendrocytes in the central nervous system. Two forms have been reported, according to the severity of the presentation: connatal and classic. It is characterised by neonatal hypotonia, delayed psychomotor development, progressive spasticity predominantly in the lower limbs and nystagmus, with pyramidal and extrapyramidal signs and symptoms; the connatal form is far more severe...
May 1, 2016: Revista de Neurologia
J Gordon Millichap
Investigators from Children's National Health System Washington, DC, USA: Harvard University, Boston, USA; Leeds Teaching Hospitals, UK; and other international centers review a series of patients with MRIs selected from IRB-approved leukodystrophy biorepositories to identify MRI patterns for recognition of early-onset Aicardi-Goutieres (A-G) syndrome and scored for a panel of radiologic predictors.
January 2015: Pediatric neurology briefs
Yi-Hong Shao, Karine Choquet, Roberta La Piana, Martine Tétreault, Marie-Josée Dicaire, Kym M Boycott, Jacek Majewski, Bernard Brais
Mutations in GALC cause Krabbe disease. This autosomal recessive leukodystrophy generally presents in early infancy as a severe disorder, but sometimes manifests as a milder adult-onset disease with spastic paraplegia as the main symptom. We recruited a family with five affected individuals presenting with adult-onset predominant cerebellar ataxia with mild spasticity. Whole exome sequencing (WES) revealed one novel and one previously reported compound heterozygous variants in GALC. Magnetic resonance imaging (MRI) confirmed the presence of typical Krabbe features...
April 2016: Neurogenetics
Katharina Stoeck, Marios Nikos Psychogios, Andreas Ohlenbusch, Robert Steinfeld, Jens Schmidt
A 48-year-old male patient presented with personality changes and progressive memory loss over 2 years with initially suspected Hashimoto's encephalopathy. Strategy of diagnostic workup of early onset dementia included dementia from neurodegenerative, neuroinflammatory, metabolic/toxic, and psychiatric origin. The patient's neurological exam was normal. MRI revealed a leukencephalopathy, predominantly in the frontal periventricular white matter, without notable changes over 2 years. On neurophysiological examination, prolonged central conduction times and a sensorimotor polyneuropathy were noted...
2016: Journal of Alzheimer's Disease: JAD
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