Aristaless-related homeobox gene disruption leads to abnormal distribution of GABAergic interneurons in human neocortex: evidence based on a case of X-linked lissencephaly with abnormal genitalia (XLAG).

Abstract:

:X-linked lissencephaly with abnormal genitalia (XLAG) is a rare disorder caused by mutations in the aristaless-related homeobox (ARX) gene, located on Xp22.13. Arx-null mice show loss of tangential migration of GABAergic interneurons, presumably being related to caudal ganglionic eminence tangential migration. In the present study, we investigated a subpopulation of GABAergic interneurons in the brain of an infant with XLAG, who had a novel nonsense mutation of the ARX gene, compared with those of age-matched normal controls and Miller-Dieker syndrome. We performed immunocytochemistry for interneuron and migration markers. We found that glutamic acid decarboxylase (GAD)- and calretinin (CR)-containing cells were significantly reduced in the neocortex and located in the white matter and neocortical subventricular zone, while neuropeptide Y- or cholecystokinin-containing cells were normally distributed. Moreover, in the neocortical subventricular region, the GAD- and CR-containing cells expressed the radial migration marker Mash-1 as well as nestin. Our findings suggest that ARX protein controls not only the tangential migration of GABAergic interneurons from the ganglionic eminence, but also may serve to induce radial migration from the neocortical subventricular zone.

journal_name

Acta Neuropathol

journal_title

Acta neuropathologica

authors

Okazaki S,Ohsawa M,Kuki I,Kawawaki H,Koriyama T,Ri S,Ichiba H,Hai E,Inoue T,Nakamura H,Goto Y,Tomiwa K,Yamano T,Kitamura K,Itoh M

doi

10.1007/s00401-008-0382-2

subject

Has Abstract

pub_date

2008-10-01 00:00:00

pages

453-62

issue

4

eissn

0001-6322

issn

1432-0533

journal_volume

116

pub_type

杂志文章
  • The proteome of granulovacuolar degeneration and neurofibrillary tangles in Alzheimer's disease.

    abstract::Granulovacuolar degeneration (GVD) is a common feature in Alzheimer's disease (AD). The occurrence of GVD is closely associated with that of neurofibrillary tangles (NFTs) and GVD is even considered to be a pre-NFT stage in the disease process of AD. Currently, the composition of GVD bodies, the mechanisms associated ...

    journal_title:Acta neuropathologica

    pub_type: 杂志文章

    doi:10.1007/s00401-020-02261-4

    authors: Hondius DC,Koopmans F,Leistner C,Pita-Illobre D,Peferoen-Baert RM,Marbus F,Paliukhovich I,Li KW,Rozemuller AJM,Hoozemans JJM,Smit AB

    更新日期:2021-01-25 00:00:00

  • The nature and timing of excitotoxic neuronal necrosis in the cerebral cortex, hippocampus and thalamus due to flurothyl-induced status epilepticus.

    abstract::Flurothyl-induced status epilepticus was studied by light and electron microscopy (LM, EM) to determine the time course and structural features of neuronal necrosis in the vulnerable brain regions in epilepsy. The cerebral cortex, hippocampus and thalamus were examined after closely spaced recovery periods of up to 1 ...

    journal_title:Acta neuropathologica

    pub_type: 杂志文章

    doi:10.1007/BF00687789

    authors: Ingvar M,Morgan PF,Auer RN

    更新日期:1988-01-01 00:00:00

  • Microglia control the spread of neurotropic virus infection via P2Y12 signalling and recruit monocytes through P2Y12-independent mechanisms.

    abstract::Neurotropic herpesviruses can establish lifelong infection in humans and contribute to severe diseases including encephalitis and neurodegeneration. However, the mechanisms through which the brain's immune system recognizes and controls viral infections propagating across synaptically linked neuronal circuits have rem...

    journal_title:Acta neuropathologica

    pub_type: 杂志文章

    doi:10.1007/s00401-018-1885-0

    authors: Fekete R,Cserép C,Lénárt N,Tóth K,Orsolits B,Martinecz B,Méhes E,Szabó B,Németh V,Gönci B,Sperlágh B,Boldogkői Z,Kittel Á,Baranyi M,Ferenczi S,Kovács K,Szalay G,Rózsa B,Webb C,Kovacs GG,Hortobágyi T,West BL,Kö

    更新日期:2018-09-01 00:00:00

  • Circulating AQP4-specific auto-antibodies alone can induce neuromyelitis optica spectrum disorder in the rat.

    abstract::It is well established that the binding of pathogenic aquaporin-4 (AQP4)-specific autoantibodies to astrocytes may initiate a cascade of events culminating in the destruction of these cells and in the formation of large tissue-destructive lesions typical for patients with neuromyelitis optica spectrum disorders (NMOSD...

    journal_title:Acta neuropathologica

    pub_type: 杂志文章

    doi:10.1007/s00401-018-1950-8

    authors: Hillebrand S,Schanda K,Nigritinou M,Tsymala I,Böhm D,Peschl P,Takai Y,Fujihara K,Nakashima I,Misu T,Reindl M,Lassmann H,Bradl M

    更新日期:2019-03-01 00:00:00

  • Integrative genetic, epigenetic and pathological analysis of paraganglioma reveals complex dysregulation of NOTCH signaling.

    abstract::Head and neck paragangliomas, rare neoplasms of the paraganglia composed of nests of neurosecretory and glial cells embedded in vascular stroma, provide a remarkable example of organoid tumor architecture. To identify genes and pathways commonly deregulated in head and neck paraganglioma, we integrated high-density ge...

    journal_title:Acta neuropathologica

    pub_type: 杂志文章

    doi:10.1007/s00401-013-1165-y

    authors: Cama A,Verginelli F,Lotti LV,Napolitano F,Morgano A,D'Orazio A,Vacca M,Perconti S,Pepe F,Romani F,Vitullo F,di Lella F,Visone R,Mannelli M,Neumann HP,Raiconi G,Paties C,Moschetta A,Tagliaferri R,Veronese A,Sanna M

    更新日期:2013-10-01 00:00:00

  • Evidence for tangential migration disturbances in human lissencephaly resulting from a defect in LIS1, DCX and ARX genes.

    abstract::During corticogenesis, neurons adopt different migration pathways to reach their final position. The precursors of pyramidal neurons migrate radially, whereas most of the GABA-containing interneurons are generated in the ventral telencephalon and migrate tangentially into the neocortex. Then, they use a radial migrati...

    journal_title:Acta neuropathologica

    pub_type: 杂志文章

    doi:10.1007/s00401-010-0692-z

    authors: Marcorelles P,Laquerrière A,Adde-Michel C,Marret S,Saugier-Veber P,Beldjord C,Friocourt G

    更新日期:2010-10-01 00:00:00

  • Tumor necrosis factor-alpha, microglia and astrocytes in AIDS dementia complex.

    abstract::The pathogenesis of HIV-associated cognitive changes is poorly understood. Cytokines such as tumor necrosis factor-alpha (TNF-alpha) have been postulated to contribute to the mechanism of the neurological complications of HIV infection. One of the effects of TNF-alpha is to induce astrocyte proliferation in vitro. The...

    journal_title:Acta neuropathologica

    pub_type: 临床试验,杂志文章

    doi:10.1007/s004010050646

    authors: Seilhean D,Kobayashi K,He Y,Uchihara T,Rosenblum O,Katlama C,Bricaire F,Duyckaerts C,Hauw JJ

    更新日期:1997-05-01 00:00:00

  • Subependymoma: a case report with ultrastructural study.

    abstract::A case history illustrating the potential clinical significance of subependymoma is presented. Fine structural studies indicate that the tumor is composed of cells having the cytoplasmic features of ependyma, astrocytes, and transitional cells. Its composition and structure are alike those in the adult mammalian subep...

    journal_title:Acta neuropathologica

    pub_type: 杂志文章

    doi:10.1007/BF00691968

    authors: Azzarelli B,Rekate HL,Roessmann U

    更新日期:1977-11-28 00:00:00

  • Identification of components of immunoglobulins in senile plaques by means of fluorescent antibody technique.

    abstract::Using a fluorescent antibody technique, sections of the brains of patients with senile dementia or Alzheimer's disease containing senile plaques were treated with rabbit antihuman immunoglobulins labelled with FITC (fluorescein isothiocyanate, BBL). The senile plaques and the cerebral amyloid angiopathy (drusige Entar...

    journal_title:Acta neuropathologica

    pub_type: 杂志文章

    doi:10.1007/BF00689569

    authors: Ishii T,Haga S

    更新日期:1975-08-11 00:00:00

  • Microglia-blood vessel interactions: a double-edged sword in brain pathologies.

    abstract::Microglia are long-living resident immune cells of the brain, which secure a stable chemical and physical microenvironment necessary for the proper functioning of the central nervous system (CNS). These highly dynamic cells continuously scan their environment for pathogens and possess the ability to react to damage-in...

    journal_title:Acta neuropathologica

    pub_type: 杂志文章,评审

    doi:10.1007/s00401-015-1524-y

    authors: Dudvarski Stankovic N,Teodorczyk M,Ploen R,Zipp F,Schmidt MHH

    更新日期:2016-03-01 00:00:00

  • Neuropathological analysis of an adult case of the Cornelia de Lange syndrome.

    abstract::Cornelia de Lange syndrome (CDLS) is a rare multisystemic malformative syndrome of uncertain etiology characterized by severe psychomotor and mental retardation. Here we report the neuropathological analysis of a 35-year-old patient who displayed the classical clinical symptomatology of CDLS. A congenital dysgenesis o...

    journal_title:Acta neuropathologica

    pub_type: 杂志文章

    doi:10.1007/s00401-002-0562-4

    authors: Vuilleumier N,Kövari E,Michon A,Hof PR,Mentenopoulos G,Giannakopoulos P,Bouras C

    更新日期:2002-09-01 00:00:00

  • A monoclonal antibody that recognizes a phosphorylated epitope in Alzheimer neurofibrillary tangles, neurofilaments and tau proteins immunostains granulovacuolar degeneration.

    abstract::A monoclonal antibody, raised against extracts from Alzheimer brain, that recognizes a phosphorylated epitope in high molecular weight neurofilament proteins and tau proteins also immunostains Alzheimer neurofibrillary tangles, neurites in senile plaques and granulovacuolar degeneration. This result suggest that granu...

    journal_title:Acta neuropathologica

    pub_type: 杂志文章

    doi:10.1007/BF00686619

    authors: Dickson DW,Ksiezak-Reding H,Davies P,Yen SH

    更新日期:1987-01-01 00:00:00

  • Neuropathology of the Norrbottnian type of Gaucher disease. Morphological and biochemical studies.

    abstract::The Norrbottnian type of Gaucher disease is characterized by infantile or juvenile onset and variable degrees of neurological symptoms, some of which develop only after splenectomy. A full neuropathological description of this type of Gaucher disease has not been reported previously. The brains of five patients were e...

    journal_title:Acta neuropathologica

    pub_type: 杂志文章

    doi:10.1007/BF00690463

    authors: Conradi NG,Sourander P,Nilsson O,Svennerholm L,Erikson A

    更新日期:1984-01-01 00:00:00

  • Hypoglycaemic neuropathy in BB/Wor rats treated with insulin implants: electron microscopic observations.

    abstract::Insulin-dependent diabetes mellitus is a chronic metabolic disease that causes long-term secondary complications such as neuropathy. The occurrence of diabetic neuropathy has generally been thought of as being associated with hyperglycaemia. However, in a previous light microscopic examination of plantar nerves in dia...

    journal_title:Acta neuropathologica

    pub_type: 杂志文章

    doi:10.1007/s004010050875

    authors: Mohseni S,Hildebrand C

    更新日期:1998-08-01 00:00:00

  • Expression of the c-erbB-2-encoded oncoprotein and progesterone receptor in human meningiomas.

    abstract::The present study investigated the expression of c-erbB-2 in 59 meningiomas, including different histological subtypes and anaplastic variants, by immunocytochemistry and molecular biological techniques. Immunohistochemistry using the monoclonal antibody FWP-51 directed against c-erbB-2-encoded oncoprotein gp185 demon...

    journal_title:Acta neuropathologica

    pub_type: 杂志文章

    doi:10.1007/BF00228582

    authors: Schlegel J,Ullrich B,Stumm G,Gass P,Harwerth IM,Hynes NE,Kiessling M

    更新日期:1993-01-01 00:00:00

  • Combined molecular analysis of BRAF and IDH1 distinguishes pilocytic astrocytoma from diffuse astrocytoma.

    abstract::Separation of pilocytic astrocytoma from diffuse astrocytomas frequently poses problems mostly related to small sample size. Precise classification and grading are essential due to different therapeutic strategies prompted by diagnoses of pilocytic astrocytoma WHO grade I, diffuse astrocytomas WHO grade II or anaplast...

    journal_title:Acta neuropathologica

    pub_type: 杂志文章

    doi:10.1007/s00401-009-0550-z

    authors: Korshunov A,Meyer J,Capper D,Christians A,Remke M,Witt H,Pfister S,von Deimling A,Hartmann C

    更新日期:2009-09-01 00:00:00

  • Deletions on the long arm of chromosome 17 in pilocytic astrocytoma.

    abstract::Pilocytic astrocytomas are the most common astrocytic tumors of childhood and differ clinically and histopathologically from those astrocytomas that affect adults. Studies of adult astrocytic tumors have revealed allelic losses on chromosomes 10, 17p, 19q and alterations in the epidermal growth factor receptor (EGFR) ...

    journal_title:Acta neuropathologica

    pub_type: 杂志文章

    doi:10.1007/BF00454903

    authors: von Deimling A,Louis DN,Menon AG,von Ammon K,Petersen I,Ellison D,Wiestler OD,Seizinger BR

    更新日期:1993-01-01 00:00:00

  • [Amyotrophic lateral sclerosis with degeneration of thalamus and substantia nigra (author's transl)].

    abstract::A 40-year-old man suffering from amyotrophic lateral sclerosis with symmetrical degeneration of the thalamus and the substantia nigra is reported. The distribution pattern of the thalamic degeneration in the present case was characteristic in that the Nucleus centralis was the severest affected of the thalamic nuclei...

    journal_title:Acta neuropathologica

    pub_type: 杂志文章

    doi:10.1007/BF00691074

    authors: Kosaka K,Mehraein P

    更新日期:1978-12-15 00:00:00

  • Lymphocyte adhesion molecule ligands and extracellular matrix proteins in gliomas and normal brain: expression of VCAM-1 in gliomas.

    abstract::To identify antigenic differences between gliomas and normal brain, we have immunohistochemically studied the expression of lymphocyte adhesion molecules (ICAM-1, ICAM-2, ICAM-3, VCAM-1, E-selectin and CD58), epidermal growth factor receptor (EGFR) and extracellular matrix proteins (collagen IV, fibronectin, laminin, ...

    journal_title:Acta neuropathologica

    pub_type: 杂志文章

    doi:10.1007/s004010050696

    authors: Mäenpää A,Kovanen PE,Paetau A,Jäáskeläinen J,Timonen T

    更新日期:1997-09-01 00:00:00

  • Cell membrane structure of human giant-celled glioblastoma.

    abstract::A giant-cell glioblastoma was examined by electron microscopy and by the freeze-fracture technique. The cell membranes bordering the extensive extracellular space often showed complicated undulations and peripheral vacuoles as well as occasional microvilli or filopodia. The undulations were mainly composed of plasmale...

    journal_title:Acta neuropathologica

    pub_type: 杂志文章

    doi:10.1007/BF00689558

    authors: Tani E,Nakano M,Itagaki T,Fukumori T

    更新日期:1978-01-19 00:00:00

  • Tumour necrosis factor-mediated cell death pathways do not contribute to muscle fibre death in dystrophinopathies.

    abstract::There is evidence that apoptotic cell death mechanisms contribute to muscle fibre loss in dystrophinopathies, but little knowledge about the activators of the final degrading caspase cascade in muscle fibre apoptosis. As mitochondria-related activation of this caspase cascade, through e.g. APAF-1, could not be proven ...

    journal_title:Acta neuropathologica

    pub_type: 杂志文章

    doi:10.1007/s00401-004-0934-z

    authors: Tews DS

    更新日期:2005-02-01 00:00:00

  • Normal and benzo(a)pyrene-transformed fetal mouse brain cells. II. Ultrastructural study.

    abstract::An ultrastructural study was performed on normal and Benzo(a)-pyrene(B(a)P)-transformed fetal mouse brain cells. Early subcultures of a strain initiated from whole brain presented three cell types in vitro: astroglial, poorly differentiated glial, and spongioblastic types. After B(a)P-treatment, there was an exclusive...

    journal_title:Acta neuropathologica

    pub_type: 杂志文章

    doi:10.1007/BF00690548

    authors: Tripier MF,Markovits P,Papadopoulo D,Toga M

    更新日期:1979-08-01 00:00:00

  • Reappraisal of progressive multifocal leukoencephalopathy due to simian virus 40.

    abstract::Several cases of progressive multifocal leukoencephalopathy (PML) have been associated with simian virus 40 (SV40), rather than with JC virus (JCV), the polyomavirus originally isolated from PML tissue. PML has, therefore, been defined as a demyelinating syndrome with possible multiple viral etiologies. Tissues from t...

    journal_title:Acta neuropathologica

    pub_type: 杂志文章

    doi:10.1007/s004010050894

    authors: Stoner GL,Ryschkewitsch CF

    更新日期:1998-09-01 00:00:00

  • Cytoplasmic inclusions of astrocytic elements of glial tumors: special reference to round granulated body and eosinophilic hyaline droplets.

    abstract::Round granulated body (RGB) and eosinophilic hyaline droplets (EHDs) have been described as cytoplasmic inclusions of certain astrocytic tumors. In the previous literature, however, these inclusions have been described using various terms or regarded as nosologically the same entity. Light microscopically, RGB appeare...

    journal_title:Acta neuropathologica

    pub_type: 杂志文章

    doi:10.1007/BF00296486

    authors: Hitotsumatsu T,Iwaki T,Fukui M,Tateishi J

    更新日期:1994-01-01 00:00:00

  • Transcytosis of macromolecules through the blood-brain barrier: a cell biological perspective and critical appraisal.

    abstract::A critical appraisal is presented of nearly two decades of research publications and review articles advocating the bidirectional transcytosis of fluid-phase molecules, most notably native horseradish peroxidase (HRP), through the normal and experimentally modified blood-brain barrier (BBB). Extracellular routes circu...

    journal_title:Acta neuropathologica

    pub_type: 杂志文章,评审

    doi:10.1007/BF00294368

    authors: Broadwell RD

    更新日期:1989-01-01 00:00:00

  • Ultrastructure of cerebellar capillary hemangioblastoma. IV. Pericytes and their relationship to endothelial cells.

    abstract::Electron microscopy and computerized morphometric techniques were employed to examine pericyte ultrastructure and to assess quantitatively their relationship to endothelial cells in five cases of cerebellar capillary hemangioblastoma. A total of 97 cross-sectioned capillary profiles were studied. Pericyte coverage of ...

    journal_title:Acta neuropathologica

    pub_type: 杂志文章

    doi:10.1007/BF00687810

    authors: Ho KL

    更新日期:1985-01-01 00:00:00

  • Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration.

    abstract::Mutations in the gene coding for Sequestosome 1 (SQSTM1) have been genetically associated with amyotrophic lateral sclerosis (ALS) and Paget disease of bone. In the present study, we analyzed the SQSTM1 coding sequence for mutations in an extended cohort of 1,808 patients with frontotemporal lobar degeneration (FTLD),...

    journal_title:Acta neuropathologica

    pub_type: 杂志文章

    doi:10.1007/s00401-014-1298-7

    authors: van der Zee J,Van Langenhove T,Kovacs GG,Dillen L,Deschamps W,Engelborghs S,Matěj R,Vandenbulcke M,Sieben A,Dermaut B,Smets K,Van Damme P,Merlin C,Laureys A,Van Den Broeck M,Mattheijssens M,Peeters K,Benussi L,Binetti

    更新日期:2014-09-01 00:00:00

  • The spinal cord-ventral root junction in the trembler mouse.

    abstract::The Trembler mouse suffers from an hereditary demyelinating neuropathy. Schwann cell myelination of peripheral nerve fibres in the Trembler mouse is abnormal. Myelination of central nerve fibres in the deeper layers of white matter of the spinal cord is normal. At the junction between the peripheral nervous system and...

    journal_title:Acta neuropathologica

    pub_type: 杂志文章

    doi:10.1007/BF00691273

    authors: Harrison BM

    更新日期:1977-04-29 00:00:00

  • Peripheral nerve axonal dwindling with concomitant myelin sheath hypertrophy in experimentally induced diabetes.

    abstract::Axons of the peripheral nervous system (PNS) are reduced in caliber in response to the experimental diabetic state. The cause of this reduced axonal size is disputed. Various theories include (a) axonal dwindling, (b) inhibition of growth, and (c) shrinkage due to serum hyperosmolarity. This study was designed to dire...

    journal_title:Acta neuropathologica

    pub_type: 杂志文章

    doi:10.1007/BF00688637

    authors: Mattingly GE,Fischer VW

    更新日期:1985-01-01 00:00:00

  • Pathological studies of aberrant peripheral nerve bundles of spinal cords.

    abstract::Aberrant peripheral nerve fiber bundles, i.e., masses of peripheral nerve fibers without perineural sheath cells, are found in the perivascular spaces of some spinal cords. The 514 spinal cords examined for these structures were separated into two groups; 507 spinal cords without definite necrotic lesions (group 1) an...

    journal_title:Acta neuropathologica

    pub_type: 杂志文章

    doi:10.1007/BF00308951

    authors: Kamiya M,Hashizume Y

    更新日期:1989-01-01 00:00:00