1/6. Numerous conglomerate inclusions in slowly progressive familial amyotrophic lateral sclerosis with posterior column involvement.A 59-year-old woman with slow progression of the loss of motor function and predominant lower motor manifestation during a 14-year period showed familial amyotrophic lateral sclerosis (fALS) with posterior column involvement, neuropathologically. Conglomerate inclusions (CIs) were observed in the remaining neurons in various areas, including the spinal anterior horn, posterior horn, Clark's column, accessory cuneate nucleus, tegmental reticular formation, motor nucleus of the trigeminal nerve, nucleus of the facial nerve, hypoglossal nucleus, medial nucleus of the thalamus, dentate nucleus, and motor cortex (Betz cells). Immunohistochemically, it was newly identified that the CIs showed marked immunoreactions with antibodies to phosphorylated and non-phosphorylated neurofilaments and to 64, 120, and 200 kD neurofilaments. The CIs were partially immunoreactive with the anti-ubiquitin antibody, although they reacted only weakly (or not at all) with anti-Cu/Zn superoxide dismutase (SOD1) antibody. Ultrastructurally, the CIs were comprised of neurofilaments. These data suggest that this case might have been different from an example of fALS with Ile 113 Thr mutation in the SOD1 gene.- - - - - - - - - - ranking = 1keywords = nucleus (Clic here for more details about this article) |
2/6. Adrenal ganglioneuroma: a familial case.A 67-year-old woman was evaluated for asymptomatic microscopic hematuria. Intravenous urography and computed tomography demonstrated an adrenal mass, but the workup for a functional adrenal tumor was negative. The mass was surgically resected, with a histologic diagnosis of adrenal ganglioneuroma. No further treatment was necessary. After the diagnosis was made, the patient reported a family history positive for neuroblastic tumors. Two of her grandchildren had presented at early ages with a ganglioneuroblastoma and a third had presented with a ganglioneuroma. This presentation is unique because ganglioneuroma, especially that of adrenal origin, is rare in the adult population, and familial cases are extremely uncommon.- - - - - - - - - - ranking = 7.7452730308779keywords = ganglion (Clic here for more details about this article) |
3/6. Familial neuroblastoma - different histological manifestations in a family with three affected individuals.Neuroblastoma is one of the most common malignant neoplasms in childhood. These tumours represent a heterogeneous group both in terms of clinical course and histological appearance, ranging from benign, slowly growing, often asymptomatic ganglioneuromas to malignant, highly aggressive neuroblastomas. Most cases occur sporadically, but in rare cases several individuals in the same family present with ganglioneuroblastomatous tumours. We report a case of familial neuroblastoma, occurring in a mother and her two daughters, with very different clinical presentation, outcome and tumour histology. The mother had recurrent, fully mature, benign ganglioneuromas, predominantly located in the retroperitoneum. The two daughters both developed malignant abdominal neuroblastomas, at the age of 2 and 8 years, respectively. Both died in spite of intensive therapy. Hereditary neuroblastoma appears to be as heterogeneous as the sporadic form of the disease. Since no consistent predisposition gene has been located in affected families, several different genetic or epigenetic events may account for the different histological and clinical presentations.- - - - - - - - - - ranking = 2.9044773865792keywords = ganglion (Clic here for more details about this article) |
4/6. Cervico-oculo-Acoustic syndrome in a male with consanguineous parents.BACKGROUND: The cervico-oculo-acoustic syndrome comprises Klippel-Feil anomaly, sensorineural deafness and Duane's retraction syndrome. Polygenic, autosomal dominant, and X-linked inheritance have been hypothesized. The disorder has rarely been reported in males. CASE REPORT: A 42-year-old male, born of consanguineous parents, presented with Duane's syndrome, mixed hearing loss, C2-C3 fusion, neck stiffness, and right facial palsy. A variety of cardiac, neurological and urogenital anomalies occurred in his relatives. The electro-oculographic studies showed impaired abduction and adduction of the right eye and impaired abduction of the left eye. Vergence, vertical eye movements and peripheral vestibular responses were normal. Somatosensory evoked potentials showed absence of the N13 peak and brainstem auditory evoked potentials bilateral delay of the I-III interpeak latencies. CONCLUSIONS: consanguinity of the patient's parents, not previously reported, suggests autosomal recessive inheritance, but autosomal dominant inheritance is indicated by the family history. The pattern of the oculomotor deficit is consistent with bilateral dysplasia of the abducens nuclei with preserved internuclear neurons in the right abducens nucleus. Neurophysiological investigations revealed lower brainstem and cervical cord involvement.- - - - - - - - - - ranking = 0.16666666666667keywords = nucleus (Clic here for more details about this article) |
5/6. Cold-induced sweating syndrome: a report of two cases and demonstration of genetic heterogeneity.OBJECTIVES: To characterize the specific autonomic disturbances underlying the cold-induced sweating syndrome (CISS), and to describe a novel genetic variant of this rare recessive disorder. The two not previously reported patients had similar dysmorphic features: abnormal facial appearance, high arched palate, low set rotated ears, flexion deformities of elbows and fingers and scoliosis. Most noticeable were their paradoxical sweat responses: cold ambient temperature induced a profuse sweating over the face, arms and trunk but not over the lower limbs; while in the heat very little sweating occurred primarily on the legs. Testing of autonomic functions demonstrated normal cardiovascular reflexes and postganglionic sympathetic efferent functions. sural nerve morphology and number of unmyelinated fibers was normal and skin biopsies showed normal appearing eccrine sweat glands. MRI scans revealed no structural brain abnormalities. Oral clonidine, prescribed in one patient, completely suppressed cold-induced sweating. Observed clinical features matched those of two sisters reported from israel and of two brothers reported from norway. All six cases presented a similar phenotype. The Norwegian, Israeli and Canadian cases were homozygous or compound heterozygous, respectively, for mutations in the CRLF1 gene on chromosome 19p12 (CISS1). The Australian case, however, had no pathogenic sequence variants in the CRLF1 gene, but was compound heterozygous for mutations in the CLCF1 gene on chromosome 11q13.3 (CISS2). CONCLUSION: The rare cold-induced sweating syndrome is genetically heterogeneous and is probably caused by central and peripheral impairment of sudomotor functions. This is the first detailed report on the clinical consequences of mutations in the CLCF1 gene in humans. Directions for medical therapies are outlined to achieve long term symptom control.- - - - - - - - - - ranking = 0.96815912885973keywords = ganglion (Clic here for more details about this article) |
6/6. Novel mitochondrial mutation in the ND4 gene associated with Leigh syndrome.We analyzed the complete mitochondrial genome of a 3-month-old female child with basal ganglionic lesions and other clinical features suggestive of Leigh syndrome, which is caused by variations in mitochondrial and nuclear genes. Our study revealed a novel, homoplasmic T11984C missense mutation in ND4 gene, which replaces a highly conserved amino acid tyrosine with histidine. Computational analysis showed that this mutation alters the secondary structure of ND4 subunit. As the mutation observed in this study was novel and homoplasmic, we speculate that there could be interplay of this mitochondrial mutation along with nuclear gene(s) in the pathogenesis.- - - - - - - - - - ranking = 2.4112687791271keywords = basal ganglion, ganglion (Clic here for more details about this article) |