OBJECTIVE: To explore the genetic basis for a fetus with cerebellar dysplasia and widened lateral ventricles. METHODS: The couple have elected induced abortion after careful counseling. Skin tissue sample from the abortus and peripheral venous blood samples from both parents were collected for the extraction of genomic DNA, which was then subjected to whole exome sequencing. Candidate variant was verified by Sanger sequencing. RESULTS: Prenatal ultrasonography showed increased nuchal translucency (0.4 cm) and widened lateral ventricles. Magnetic resonance imaging revealed infratentorial brain dysplasia. By DNA sequencing, the fetus was found to carry compound heterozygous variants c.1A>G and c.1564G>A of the RARS2 gene, which were inherited from its father and mother, respectively. Among these, c.1A>G was known to be pathogenic, but the pathogenicity of c.1564G>A was unreported previously. Based on the American College of Medical Genetics and Genomics guidelines, the c.1564G>A variant of RARS2 gene was predicted to be likely pathogenic(PM2+PM3+PP3+PP4). CONCLUSION The compound heterozygous variants c.1A>G and c.1564G>A of RARS2 gene contributed to the fetus suffering from pontocerebellar hypoplasia type 6, which expanded variant spectrum of RARS2 gene.
Female ; Fetus ; Genomics ; Humans ; Mutation ; Olivopontocerebellar Atrophies ; Pregnancy ; Whole Exome Sequencing

OBJECTIVE: To clarify the specificity of the ‘hot cross bun’ sign (HCBS) for multiple system atrophy (MSA) in adult cerebellar ataxia or parkinsonism. METHODS: The radiologic information systems at an academic center and affiliated veterans' hospital were queried using the keywords ‘hot cross bun,’ ‘pontocerebellar,’ ‘cruciate,’ ‘cruciform,’ ‘MSA,’ ‘multiple system atrophy,’ and ‘multisystem atrophy.’ Scans were reviewed by a neurologist and neuroradiologist to identify the HCBS. Subjects with the HCBS were reviewed by 2 neurologists to identify the most likely etiology of the patient's neurologic symptoms. RESULTS: Eleven cases were identified. Etiologies included MSA (4 probable, 2 possible), hereditary cerebellar ataxia (3/11), probable dementia with Lewy bodies (1/11), and uncertain despite autopsy (1/11). CONCLUSION: MSA was the most common etiology. However, 5 of the 11 patients did not have MSA. The most common alternate etiology was an undefined hereditary cerebellar ataxia (3/11).
Adult ; Autopsy ; Cerebellar Ataxia ; Dementia ; Hexachlorobenzene ; Humans ; Lewy Bodies ; Magnetic Resonance Imaging ; Multiple System Atrophy ; Neurologic Manifestations ; Olivopontocerebellar Atrophies ; Parkinsonian Disorders ; Radiology Information Systems ; Sensitivity and Specificity

Adult ; Female ; Humans ; Male ; Olivopontocerebellar Atrophies ; genetics ; Pedigree ; Young Adult

Acupuncture Therapy ; Aged ; Female ; Humans ; Olivopontocerebellar Atrophies ; therapy

AIMTo investigate the change of latency and interpeak latency of each component of BAEP (brainstem auditory evoked potential, BAEP) and its correlation with PV/PFV (pontine volume/posterior fossa volume, PV/PFV) ratio in OPCA (olivopontocerebellar atrophy, OPCA).

METHODSWe used Keypoint EMG/EP to determine waves I PL (peak latency, PL), III PL, V PL and I - III IPL (interpeak latency, IPL), III - V IPL, I - V IPL and used 1.5TMR 3D volume rendering software to determine PV (pontine volume, PV), CV(cerebellar volume, CV) and PFV (posterior fossa volume,PFV). Then calculated PV/PFV ratio, CV/PFV ratio and PV/ CV ratio in OPCA group and control group.

RESULTSCompared with control group, in OPCA group wave IIII PL, I - III IPL were significantly elongated (P < 0.05), III - V IPL was significantly shorten (P < 0.05), PV/PFV ratio was significantly decreased (P < 0.01); there was a positive correlation between III-V IPL and PV/PFV ratio (r = 0.83, P < 0.01).

CONCLUSIONIn patients with OPCA, III PL, I - III IPL of BAEP were elongated and III - V IPL of BAEP was shorten. III - V IPL became shorter when the volume of pontine decreased.

Adult ; Case-Control Studies ; Evoked Potentials, Auditory, Brain Stem ; physiology ; Female ; Humans ; Male ; Middle Aged ; Olivopontocerebellar Atrophies ; pathology ; physiopathology ; Pons ; pathology

BACKGROUND: Ocular flutter is a rare horizontal eye movement disorder characterized by rapid saccadic oscillations. Excessive discharge of burst neurons, and/or loss of tonic excitation of pause cells cause ocular flutter in several neurologic diseases. Ocular flutter can be easily differentiated from other saccadic oscillations with the aid of electro-oculography (EOG) findings showing an absence of intersaccadic intervals. METHODS: We analyzed EOG findings of ocular flutter in four patients. RESULTS: Ocular flutter, which was shown as rapid, repetitive, horizontal, symmetrical, and sinusoidal movements without intersaccadic intervals on EOG, was confirmed in four patients. The etiology of each patient was olivopontocerebellar atrophy (1 case), meningoencephalitis (2 cases), and lithium intoxication (1 case). CONCLUSIONS: Ocular flutter can be present in numerous neurologic diseases. Characteristic EOG findings are useful in the diagnosis of ocular flutter.
Diagnosis ; Electrooculography ; Humans ; Lithium ; Meningoencephalitis ; Neurons ; Ocular Motility Disorders ; Olivopontocerebellar Atrophies ; Saccades

We report a case of spontaneous intracranial epidural hematoma following the intraoperative course of a patient who had undergone surgical removal of a thoracolumbar schwannoma in olivo-ponto-cerebellar atrophy. To our knowledge there is no reported case in which the thoracolumbar schwannoma removal was followed by such a complication. Mechanical events leading to this complication are unclear. Abnormal results of a neurological examination in the early postoperative period should suggest this possibility.
Hematoma, Epidural, Cranial* ; Humans ; Neurilemmoma* ; Neurologic Examination ; Olivopontocerebellar Atrophies ; Postoperative Period

PURPOSE: To demonstrate the MRI findings of olivopontocerebellar atrophy. MATERIALS AND METHODS: We retrospectively reviewed the MRI findings of eight patients who had been diagnosed by clinical manifestation and the peculiar pattern of atrophy and signal change on MRI. RESULTS: Seven patients had an atrophy of the olive, pons and cerebellum and increased signal change of the transverse pontine fiber, median raphe and middle cerebellar peduncle on T2WI. Of these, six patients had severe atrophy of the olive, pons and cerebellum and decreased signal change of the basal ganglia, red nucleus, substantia nigra or dentate nucleus on T2WI. Additionally, four of six patients had a cerebral atrophy. Except one patient who had an urinary incontinence, these 5 patients had not been associated with extrapyramidal or autonomic symptom. The other patient with relatively short duration of the disease had only cerebellar atrophy without signal change on T2WI . CONCLUSION: With progressing of the olivopontocerebellar atrophy, cerebral atrophy and decreased signal change of the basal ganglia, red nucleus, substantia nigra or dentate nucleus on T2WI is combined. Thus, MRI is essential in establishing the diagnosis and evaluating the severity of olivopontocerebellar atrophy.
Atrophy ; Basal Ganglia ; Brain* ; Cerebellar Nuclei ; Cerebellum ; Diagnosis ; Humans ; Magnetic Resonance Imaging* ; Olea ; Olivopontocerebellar Atrophies* ; Pons ; Red Nucleus ; Retrospective Studies ; Substantia Nigra ; Urinary Incontinence

Autosomal dominant cerebellar ataxia(ADCA) is an unusual, familial hereditary disorder that ha been called olivopontocerebellar atrophy. ADCA type II is usually accompanied with severely decreased visual acuity and cerebellar ataxia. We experienced a 39 year-old female with ADCA type II who had the severely decreased visual acuity and progressive familial cerebellar ataxia. The diagnosis for ADCA type II was made through several ophthalmic examinations. brain magnetic resonance imaging, and chromosomal study. When ophthalmologists encounter a patient with decreased visual acuity and cerebellar ataxia, this disorder should not be overlooked. We report this unusual case with literature review.
Adult ; Brain ; Cerebellar Ataxia* ; Diagnosis ; Female ; Humans ; Magnetic Resonance Imaging ; Olivopontocerebellar Atrophies ; Optic Atrophy* ; Visual Acuity

BACKGROUND & OBJECT10NS: Multiple system atrophy(MSA) is a heterogenous system disorder affecting extrapyramidal, cerebellar and autonomic nervous system. Clinical spectrum is broad, and depending on the system affected, patients are classified into striato-nigral degeneration (SND), olivo-ponto-cerebellar atrophy (OPCA) and Shy-Draper syndrome (SDS). However, evolution of symptoms during follow-up usually occurs, stirring up a debate between "lumpers" and "splitters". Recent pathological documentation of intracytoplasmic inclusions support "lumpers" that MSA is a specific disease entity with specific pathology. The study was done to analyze the natural course of MSA, and examine whether they are separate or part of the same disease. METHOD: We obtained the clinical data of patients with clinically probable MSA by the criteria of Quinn (1994). In addition to review of medical records, all patients were phone-interviewed or examined personally. RESULTS: Forty four patients were included in the study (male 23, female 21). Mean onset age 52.9 years, and mean follow-up period 19.7 months. Nine patients died during follow-up (mean disease duration 5.2 years). The initial predominant features were parkinsonism in 40% (14/35), cerebellar dysfunction in 25.7% (9/35), autonomic dysfunction in 17.1% (6/35) and others in 17.1%. At the latest follow-up, parkinsonism were noted in 77.1%, cerebellar dysfunction in 88.6% and autonomic dysfunction in 80%. With progression, all the patients showed mixed clinical manifestations, the most common being combination of all 3(60%). CONCLUS10N: The data supports that SND, OPCA and SDS are part of the same disease process.
Age of Onset ; Autonomic Nervous System ; Cerebellar Diseases ; Female ; Follow-Up Studies ; Humans ; Medical Records ; Natural History* ; Olivopontocerebellar Atrophies ; Parkinsonian Disorders ; Pathology