1/13. Severe type II gaucher disease with ichthyosis, arthrogryposis and neuronal apoptosis: molecular and pathological analyses.Severe infantile gaucher disease associated with ichthyosis and neonatal death is a rare subgroup of Type II gaucher disease. This group of infants has little, if any, detectable beta-glucocerebrosidase activity, and prior genetic analyses have been limited in detecting the mutations responsible for this phenotype. We document an Hispanic infant succumbing with arthrogryposis and collodion membrane covering the skin who had no detectable beta-glucocerebrosidase activity in tissue samples and who was homozygous for a rare recombinant allele, RecNciI. Microscopic evaluation demonstrated accumulation of Gaucher cells in visceral organs and extensive loss of neurons in the anterior horns, brainstem, and cortex of the nervous system. The apoptosis of neuronal cells from the anterior horns and brainstem are a reasonable explanation for the arthrogryposis and neonatal death, respectively.- - - - - - - - - - ranking = 1keywords = neuronal (Clic here for more details about this article) |
2/13. Neonatal arthrogryposis and absent limb muscles: a muscle developmental gene defect?We describe a child who presented at birth with arthrogryposis. Following a muscle biopsy a diagnosis of congenital muscular dystrophy was made and a skin biopsy 12 years later confirmed the presence of merosin. Her clinical picture was unusual, however, for merosin-positive congenital muscular dystrophy. She had extreme wasting and weakness of her arms and legs. In contrast, she had good neck and trunk control, and no facial or respiratory muscle weakness. We have used magnetic resonance imaging to examine the pattern of muscle involvement in this case. No recognizable muscle could be identified in the limbs. In contrast, the axial muscles were preserved. This striking pattern of virtual absence of muscles in the limbs with sparing of the axial muscle suggests that a gene responsible for the migration and/or proliferation of limb muscle precursor cells may be involved in the disease process. It is recognized that merosin-positive congenital muscular dystrophy is a heterogeneous disease. magnetic resonance imaging is a useful tool for examining in detail the pattern of muscle involvement and identifying individual phenotypes. Understanding more about which muscles are affected in children with congenital myopathies may provide information on the underlying pathological process and help in the search for candidate proteins and genes.- - - - - - - - - - ranking = 0.033760132346776keywords = migration (Clic here for more details about this article) |
3/13. Asymmetric arthrogryposis multiplex congenita with focal pachygyria.A male infant with predominantly right-sided arthrogryposis multiplex congenita is presented. His posture in the lower extremities was asymmetric, and left thoracic scoliosis was present. This patient also manifested focal pachygyria dominantly affecting the contralateral cerebral hemisphere and hypoplasia of the corpus callosum, brainstem, and cerebellar vermis. Generalized tonic seizures began at 2 months of age, and an electroencephalogram revealed epileptic discharge. biopsy of the right biceps revealed a nonspecific change. A direct causal relationship between neuronal migration disorders and arthrogryposis multiplex congenita has not been established, but considering the abnormal neuronal migration along the entire neural axis in focal pachygyria, the predominantly right-sided arthrogryposis in this patient was speculated to be closely related to the pachygyria of the frontal and temporal lobes dominantly affected in the left cerebral hemisphere.- - - - - - - - - - ranking = 65.074351409855keywords = neuronal migration, neuronal, migration (Clic here for more details about this article) |
4/13. The spectrum of type III lissencephaly: a clinicopathological update.A third type of lissencephaly that does not fufil diagnostic criteria of type I ("classical") and type II ("cobblestone") lissencephaly was described by our group as a new entity identified as OMIM 601160. This lethal familial syndrome comprises micrencephaly/lissencephaly and a spectrum of abnormalities lined to a severe fetal akinesia deformation sequence. Neuropathological findings suggest severe neurodegeneration leading to a marked neuronal dropout of the entire central nervous system and atrophy. Similar neuropathological findings have been described in the Neu-Laxova syndrome (NLS), an apparently different lethal malformation syndrome. Neuropathological similarities between OMIM 601160 and NLS raise the question of clinicopathological variability and genetic heterogeneity of type III lissencephaly. To answer this question, we compared our clinicopathological findings in a series of fetuses with OMIM 601160 to pathological data reported in NLS. In the study, 5 unrelated families with 7 affected fetuses were included. Interestingly, we found striking clinicopathological similarities between OMIM 601160 and NLS, which may represent a variability of a single neurodegenerative disease with early prenatal onset. Molecular studies in multiplex families defined through detailed clinicopathological screening are needed to clarify the distinction, if any, between these two entities.- - - - - - - - - - ranking = 0.2keywords = neuronal (Clic here for more details about this article) |
5/13. Fetal arthrogryposis and maternal serum antibodies.arthrogryposis multiplex congenital (AMC) describes multiple joint contractures resulting from lack of movement in utero. antibodies directed at the fetal isoform of the muscle acetylcholine receptor (AChR) have been reported in a small number of asymptomatic mothers of AMC babies. We examined sera from 179 mothers of AMC babies and 20 parous and non-parous controls to look for antibodies to AChR or undefined muscle or neuronal proteins. We found positive AChR antibodies in only three sera (1.5%) from asymptomatic AMC mothers. However, there was reactivity with muscle or with neuronal antigens in 33% of the sera, and reactivity to undefined neuronal antigens was more common in sera from mothers of AMC babies with CNS involvement (p=0.001) than those without. The offspring of mothers with AChR antibodies may benefit from treatment during pregnancy. Other maternal antibodies require further study, but these observations add to the emerging literature on maternal antibodies associated with developmental intrauterine disorders.- - - - - - - - - - ranking = 0.6keywords = neuronal (Clic here for more details about this article) |
6/13. Congenital absence of peripheral myelin: abnormal Schwann cell development causes lethal arthrogryposis multiplex congenita.We describe a 37-week gestational age infant who presented with lethal arthrogryposis multiplex congenita due to complete absence of peripheral nervous system (PNS) myelin. schwann cells accomplished successful developmental proliferation, migration, axonal ensheathment, basal lamina production, and subsequent cessation of proliferation, but failed in spiral lengthening and longitudinal growth. Internuclear distance was very short, resulting in marked Schwann cell hypercellularity. No supernumerary schwann cells (onion bulbs) were found. No PNS myelin proteins (P0, P1, MAG) were detected by immunocytochemical methods, and the schwann cells adopted many morphologic features characteristic of unmyelinated nerves. The defect appears to be an arrest in Schwann cell differentiation at the stages of mesaxon elongation and longitudinal growth.- - - - - - - - - - ranking = 0.033760132346776keywords = migration (Clic here for more details about this article) |
7/13. A distinct congenital motor and sensory neuropathy (neuronal type) with dysmorphic features in a father and two sons. A variant of charcot-marie-tooth disease.A 37-year-old male had clinical and electrophysiological features of hereditary motor and sensory neuropathy (neuronal type) with onset in infancy, as well as histological picture of neurogenic myopathy. Two sons, aged 2 and 3 4/12 years, showed congenital contraction deformities of feet, delayed motor development, and electrophysiological features similar to those of the father. All three also presented laryngeal abnormalities, peculiar facies, short neck, narrow shoulders and protruding chest. The authors conclude that this aggregate of anomalies constitutes a "new" syndrome probably due to an autosomal dominant gene.- - - - - - - - - - ranking = 1keywords = neuronal (Clic here for more details about this article) |
8/13. Disturbances in neuronal migration and laminar cortical organization associated with multicystic encephalopathy in the Pena-Shokeir syndrome.The Pena-Shokeir syndrome is characterized by intrauterine growth retardation, camptodactyly, multiple ankyloses, facial anomalies and pulmonary hypoplasia. The condition is thought to be inherited in an autosomal recessive fashion. A detailed neuropathological analysis of the brain of a stillborn full-term male infant who exhibited the gross features of the Pena-Shokeir syndrome revealed diffuse bilateral cerebral polymicrogyria associated with multicystic encephalopathy. Abnormal brain development, which was characterized by disturbances in neuronal migration and laminar cortical organization, was clearly associated with changes of an encephaloclastic nature, namely reactive gliosis and infiltration by macrophages. These findings suggest strongly that the Pena-Shokeir syndrome may also result from teratogenic factors such as intrauterine ischemic and/or hypoxic insults to the developing brain.- - - - - - - - - - ranking = 162.68587852464keywords = neuronal migration, neuronal, migration (Clic here for more details about this article) |
9/13. The association of cortical dysplasia and anterior horn arthrogryposis: a case report.We describe a 21-year-old woman with neurogenic congenital contractures (arthrogryposis) of the lower limbs, normal intelligence, hyper-reflexia and partial epilepsy. MRI revealed bilateral opercular (perisylvian) cortical dysplasia with infolding of cerebral cortex, a focal neuroblast migrational disorder. This type of migrational disorder is known to have a prenatal onset after the 20th fetal week, whereas the anterior horn cell degeneration responsible of neurogenic arthrogryposis originates at 12-14 weeks of gestation. A prenatal viral infection along the neural axis during both these gestational periods or a genetic defect could be responsible for both lesions in this case.- - - - - - - - - - ranking = 0.067520264693551keywords = migration (Clic here for more details about this article) |
10/13. Epileptic seizures, arthrogryposis, and migrational brain disorders: a syndrome?INTRODUCTION--arthrogryposis multiplex congenita (AMC) may be associated with multiple developmental defects. In some severely affected newborns with AMC, autopsy studies have suggested a common mechanism of malmigration at the spinal and cerebral levels. To our knowledge, a constellation of arthrogryposis, epileptic seizures, and brain migrational anomalies in adult patients has not previously been described in a clinical material. MATERIAL AND methods--Six consecutive adult patients with arthrogryposis multiplex congenita and epileptic seizures form the basis of the present study. Five patients had joint contractures and reduced muscle volume restricted to the lower extremities, whereas one patient had predominantly upper extremity affection. They were studied with magnetic resonance imaging (MRI), EEG, EMG, a neuropsychological test battery, and chromosome analysis. RESULTS--Four of them had clear evidence of migrational brain disorders, demonstrated by MRI, in three of them roughly corresponding to the focal epileptiform EEG activity. Five of the patients had partial seizures, whereas one only had generalized tonic-clonic seizures. The MRI findings included polymicrogyria, pachygyria, and fused schizencephaly. Four had neurogenic EMG changes, one had myopathic EMG features, and one had an unremarkable EMG pattern in affected muscles. All patients with demonstrable migrational disorders showed abnormal neuropsychological features. Three patients were mentally retarded. A chromosome abnormality in the form of a ring chromosome 18 was present in one patient. CONCLUSION--We suggest that AMC, epileptic seizures, and migrational brain disorders may form the integral parts of a hitherto undescribed syndrome in adults. A wide-spread defect in neuronal migration along the entire neural axis may be the underlying mechanism of the cerebral and the peripheral symptoms.- - - - - - - - - - ranking = 32.841016896049keywords = neuronal migration, neuronal, migration (Clic here for more details about this article) |
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