2.Analysis of TUBB4A gene variant in a patient with adolescent-onset hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum.
Zixuan YING ; Xi CHENG ; Xiaoquan XU ; Zhi MA ; Zhengyu CHEN ; Wen CHEN ; Lang QIN ; Qi NIU
Chinese Journal of Medical Genetics 2023;40(4):390-394
OBJECTIVE:
To explore the clinical characteristics and genetic etiology of a patient with adolescent-onset hypomyelinated leukodystrophy with atrophy of basal ganglia and cerebellum (H-ABC).
METHODS:
A patient who was diagnosed with H-ABC in March 2018 at the First Affiliated Hospital of Nanjing Medical University was selected as the study subject. Clinical data was collected. Peripheral venous blood samples of the patient and his parents were collected. The patient was subjected to whole exome sequencing (WES). Candidate variant was verified by Sanger sequencing.
RESULTS:
The patient, a 31-year-old male, had manifested with developmental retardation, cognitive decline and abnormal gait. WES revealed that he has harbored a heterozygous c.286G>A variant of the TUBB4A gene. Sanger sequencing confirmed that neither of his parents has carried the same variant. Analysis with SIFT online software indicated the amino acid encoded by this variant is highly conserved among various species. This variant has been recorded by the Human Gene Mutation Database (HGMD) with a low population frequency. The 3D structure constructed by PyMOL software showed that the variant has a harmful effect on the structure and function of the protein. According to the guidelines formulated by the American College of Medical Genetics and Genomics (ACMG), the variant was rated as likely pathogenic.
CONCLUSION
The c.286G>A (p.Gly96Arg) variant of the TUBB4A gene probably underlay the hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum in this patient. Above finding has enriched the spectrum of TUBB4A gene variants and enabled early definitive diagnosis of this disorder.
Male
;
Humans
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Adolescent
;
Adult
;
Magnetic Resonance Imaging
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Basal Ganglia/pathology*
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Cerebellum
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Atrophy/pathology*
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Mutation
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Tubulin/genetics*
3.A case of Leigh's disease with initial manifestation of dystonia.
Chae Woo CHUNG ; Sung Hee HWANG ; Young Chul CHOI ; Young Ho SOHN ; Jin Soo KIM ; Byung Chul LEE ; Je Geun CHI
Yonsei Medical Journal 1990;31(3):274-279
A case of Leigh's disease (subacute necrotizing encephalomyelopathy) is reported with such noteworthy features as early onset, dystonia, paraparesis the presence of low attenuation areas in both basal ganglias on computerized tomography of the brain and the presence of a high signal intensity in both basal ganglias in T2 weighted image by MR. The electron microscopic findings of muscle biopsy are suggestive of pleoconial mitochondrial myopathy.
Basal Ganglia/pathology
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Case Report
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Dystonia/diagnosis/*etiology
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Energy Metabolism
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Human
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Infant
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Leigh Disease/*diagnosis/metabolism/pathology
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Male
;
Muscles/pathology
4.Glial abnormalities in progressive supranuclear palsy and corticobasal degeneration.
Ming-wei ZHU ; Lu-ning WANG ; Xiang-hong LI ; Qiu-ping GUI
Chinese Journal of Pathology 2004;33(2):125-129
OBJECTIVETo study pathologic features of glial cells in progressive supranuclear palsy (PSP) and corticobasal degeneration (CBD) and to explore their pathologic significance.
METHODSBrain tissues from 2 cases with PSP and 3 cases with CBD, all confirmed by autopsies, were examined by routine neuropathologic methods, Gallyas-Braak staining and tau immunostaining. Brain tissues from 6 Alzheimer's disease cases, 4 cases with Parkinson's disease and 6 elderly with no neurologic abnormality were used as controls.
RESULTSGallyas-Braak staining demonstrated tuft-shaped astrocytes and coiled-body oligodendroglial cells in the brain tissues of 2 cases with PSP and 3 cases with CBD. The tuft-shaped astrocytes appeared prominently in the frontal and parietal cortex, basal ganglia and grey matter of the brainstem. The coiled-body oligodendroglial cells were distributed widely in the white matter of the frontal and parietal lobes, basal ganglia, brainstem and cerebellum. However, astrocytic plaques, composed of degenerative stubby processes with radiating arrangement, only appeared in the frontal, parietal and cingular cortex, as well as in the striatum of 3 cases with CBD. The astrocytic plaques and tuft-shaped astrocytes coexisted in the same areas, including parietal and cingular cortex and striatum, in CBD. All these glial abnormalities showed tau-positive immunoreaction not found in control cases.
CONCLUSIONSThe tuft-shaped astrocytes and coiled-body oligodendroglial cells are common glial morphologic features of both PSP and CBD. Astrocytic plaques are also characteristically seen in CBD.
Aged ; Aged, 80 and over ; Astrocytes ; pathology ; Basal Ganglia ; pathology ; Brain Stem ; pathology ; Cerebral Cortex ; pathology ; Humans ; Male ; Neurodegenerative Diseases ; pathology ; Oligodendroglia ; pathology ; Supranuclear Palsy, Progressive ; pathology
5.Non-typhoid Salmonella meningitis complicated by a infarction of basal ganglia.
Hyunmi KIM ; Jin Yeoung JEOUNG ; Soo Youn HAM ; Sung Ryul KIM
Journal of Korean Medical Science 1999;14(3):342-344
A previously healthy 16-month-old Korean girl with symptoms of fever, vomiting, and generalized tonic seizure was diagnosed to have Group D non-typhoid Salmonella meningitis. The patient was treated with ceftriaxone (100 mg/kg/day) and amikin (22.5 mg/kg/day) initially and ciprofloxacin (30 mg/kg/day) was added later because of clinical deterioration and disseminated intravascular coagulation. Brain CT performed on the second day showed a well-demarcated low density lesion in the right lentiform nucleus and both caudate nuclei, without evidence of increased intracranial pressure. MRI performed on the 11th day confirmed CT scan findings as well as right subdural fluid collection, brain atrophy, and ventriculomegaly. She underwent subdural drainage and later ventriculo-peritoneal shunt operation. Despite receiving intensive treatment, she still has severe neurologic sequelae. Our case shows that infarctions of basal ganglia and thalami are not specific for tuberculous meningitis and that meningitis complicated by infarction is indicative of grave prognosis.
Basal Ganglia Diseases/radiography
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Basal Ganglia Diseases/pathology
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Basal Ganglia Diseases/complications
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Basal Ganglia Diseases/cerebrospinal fluid
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Brain/radiography
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Brain/pathology
;
Case Report
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Cerebral Infarction/radiography
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Cerebral Infarction/pathology
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Cerebral Infarction/complications*
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Cerebral Infarction/cerebrospinal fluid
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Female
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Follow-Up Studies
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Human
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Infant
;
Magnetic Resonance Imaging
;
Meningitis, Bacterial/radiography
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Meningitis, Bacterial/pathology
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Meningitis, Bacterial/complications*
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Meningitis, Bacterial/cerebrospinal fluid
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Salmonella Infections/complications*
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Tomography, X-Ray Computed/methods
6.Minor injury and basal ganglia calcification may be the risk factors of children's stroke.
Li-qiong JIANG ; Jiu-wei LI ; Jian-jun WANG
Chinese Journal of Pediatrics 2008;46(6):475-476
Adolescent
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Basal Ganglia
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pathology
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Calcinosis
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Child
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Child, Preschool
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Female
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Humans
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Infant
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Male
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Risk Factors
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Stroke
;
etiology
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Wounds and Injuries
7.Effects of extracellular signal-regulated kinase (ERK) on focal cerebral ischemia.
Zhiqiu WANG ; Xiancheng CHEN ; Liangfu ZHOU ; Duchu WU ; Xiaoming CHE ; Guoyuan YANG
Chinese Medical Journal 2003;116(10):1497-1503
OBJECTIVETo determine the role of extracellular signal-regulated kinase (ERK)1/2 during focal cerebral ischemia.
METHODSLeft middle cerebral artery occlusion (MCAO) was undergone after the introduction of a nylon suture to the left internal carotid artery in 70 male adult CD-1 mice. ERK 1/2 phosphorylation was detected using Western blot analysis, and the morphological feature was determined by immunohistochemistry. An ERK pathway inhibitor, 1,4-diamino-2,3-dicyano-1,4-bis[2-amino-phenylthio] butadiene (U0126), was administered intravenously 20 minutes before MCAO, and the neurological deficit levels and the infarct volumes were measured 24 hours after MCAO.
RESULTSPhosphorylated ERK 1/2 (pERK 1/2) activity increased after 30 minutes of MCAO and peaked at 2 hours. The immunohistochemical study displayed a large number of pERK 1/2 positive cells in the ischemic basal ganglion and surrounding cortex. Double-labeled fluorescent staining identified the pERK1/2 positive cells as neurons or astrocytes. In U0126 treated mice which had undergone 24 hours of MCAO, the neurological deficit levels and the infarct volumes were 44.6% and 45.8% respectively, less than those of the control mice.
CONCLUSIONSERK plays an important role in focal cerebral ischemia and inhibition of the ERK pathway can help protect against ischemic brain injury, which may provide a therapeutic approach for cerebral ischemia.
Animals ; Basal Ganglia ; pathology ; Brain Ischemia ; metabolism ; pathology ; physiopathology ; Butadienes ; pharmacology ; Cerebral Cortex ; pathology ; Immunohistochemistry ; Male ; Mice ; Mitogen-Activated Protein Kinases ; antagonists & inhibitors ; physiology ; Nitriles ; pharmacology ; Phosphorylation
8.Study of the neuropsychology and aural event related evoked potential on patients with the infarction in basal ganglia region.
Jiong ZHOU ; Hou-min YIN ; Xiao-liu WANG ; Xia-qing XUAN
Chinese Journal of Applied Physiology 2007;23(4):450-454
AIMTo learn the condition of the memory and the visual space of the patient who has suffered from the infarction in basal ganglia region, and to analyze its impact on and the characteristics of the patients' cognition.
METHODSBy testing respectively on 21 subjects who were initially infarcted in basal ganglia with single focus on one side, and 21 healthy volunteers with corresponding age, gender and educational background with Rey-Osterrieth Complex Figure Scale (Rey), Clinical Memory Scale (CMS), Hospital Anxiety-Depression Scale (HAD), National Institute of Health Stroke Scale (NIHSS), Oxford Handicap Scale (OHS), Barthel Index (BI), and Aural Event Related Evoked Potential (AERP) as well.
RESULTSCompared with the control group, the patient group got higher scores of anxiety and depression in HAD), which showed absolutely statistical significance; they demonstrated longer reaction time in AERP, which also showed statistical significance; and in CMS. they displayed inferior performance in the free picture recall and the memory quotient (MQ), which again had statistical significance. However, compared with the control group, the patient group got scores with no significance in copy, immediate recall and delayed recall in Rey.
CONCLUSIONThe infarction in basal ganglia region with single focus on one side may impact on the patient's executive function, memory function and emotion. But no impact is showed on patient's visual space function.
Adult ; Aged ; Basal Ganglia ; pathology ; Brain Infarction ; pathology ; physiopathology ; psychology ; Case-Control Studies ; Evoked Potentials, Auditory ; Female ; Humans ; Male ; Middle Aged ; Neuropsychological Tests
9.Gitelman's syndrome presenting with hypocalcaemia, basal ganglia calcification and periodic paralysis.
Susanta Kumar DAS ; Amritava GHOSH ; Niloy BANERJEE ; Sudarshan KHASKIL
Singapore medical journal 2012;53(10):e222-4
Gitelman's syndrome (GS), also referred to as familial hypokalaemia-hypomagnesaemia syndrome, is an autosomal recessive renal tubular disorder characterised by hypokalaemic metabolic alkalosis, hypomagnesaemia and hypocalciuria. It is caused by a defect of the thiazide-sensitive sodium chloride co-transporter at the distal tubule. This condition was previously confused with Bartter syndrome. Documentation of hypocalciuria helps to differentiate GS from Bartter syndrome. We report a 44-year-old woman who presented with a history of seizure disorder and periodic paralysis. On investigation, she was found to have hypokalaemic metabolic alkalosis, hypomagnesaemia, hypocalciuria, hypoparathyroidism, hypocalcaemia and basal ganglia calcification, consistent with GS. The atypical features in our case, namely basal ganglia calcification and hypocalcaemia, prompted the writing of this case report.
Adult
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Basal Ganglia Diseases
;
diagnosis
;
pathology
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Brain
;
pathology
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Calcinosis
;
diagnosis
;
pathology
;
Diagnosis, Differential
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Female
;
Gitelman Syndrome
;
diagnosis
;
pathology
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Humans
;
Hypocalcemia
;
diagnosis
;
pathology
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Hypokalemic Periodic Paralysis
;
diagnosis
;
pathology
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Neuroimaging
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Tomography, X-Ray Computed
10.Binswanger's Disease Associated with Alzheimer's Pathology: An Autopsy Case.
Seong Min JU ; Byung Gi KIM ; Hwa Young LEE ; Hoo Won KIM ; Gun Sei OH ; Hee Jung SONG ; Ki Hwa YANG ; Tae Hong KIM
Journal of the Korean Neurological Association 2000;18(5):632-636
Binswanger's disease (BD) is an illness of hypertensive elderly patients characterised clinically by disorders of memory, mood and cognition; focal motor signs; and less often, a pseudobulbar syndrome with deterioration of gait and sphincter control. The illness is usually slowly progressive. The important pathological features of BD are widespread degeneration in the deep white matter with diffuse, patchy axonal and myelin loss, and gliosis. The more diffuse lesions in the centrum semiovale have been related to myelin rarefaction that spares the U-fibers. The MRI appearance of BD is multiple confluent white matter lesions of various sizes, many of which are quite small and concentrated around the basal ganglia and periventricular areas. We report an autopsy case of Binswanger's disease associated with Alzheimer's pathology.
Aged
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Alzheimer Disease
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Autopsy*
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Axons
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Basal Ganglia
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Cognition
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Dementia, Vascular*
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Gait
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Gliosis
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Humans
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Magnetic Resonance Imaging
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Memory
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Myelin Sheath
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Pathology*
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Pseudobulbar Palsy