Cases reported "Tremor"

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1/14. Clinical genetics of familial progressive supranuclear palsy.

    Recent studies have shown that progressive supranuclear palsy (PSP) could be inherited, but the pattern of inheritance and the spectrum of the clinical findings in relatives are unknown. We here report 12 pedigrees, confirmed by pathology in four probands, with familial PSP. Pathological diagnosis was confirmed according to recently reported internationally agreed criteria. The spectrum of the clinical phenotypes in these families was variable including 34 typical cases of PSP (12 probands plus 22 secondary cases), three patients with postural tremor, three with dementia, one with parkinsonism, two with tremor, dystonia, gaze palsy and tics, and one with gait disturbance. The presence of affected members in at least two generations in eight of the families and the absence of consanguinity suggests autosomal dominant transmission with incomplete penetrance. We conclude that hereditary PSP is more frequent than previously thought and that the scarcity of familial cases may be related to a lack of recognition of the variable phenotypic expression of the disease.
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ranking = 1
keywords = progressive supranuclear, supranuclear, supranuclear palsy, palsy
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2/14. Palatal tremor, progressive multiple cranial nerve palsies, and cerebellar ataxia: a case report and review of literature of palatal tremors in neurodegenerative disease.

    We describe a patient with an unusual clinical presentation of progressive multiple cranial nerve palsies, cerebellar ataxia, and palatal tremor (PT) resulting from an unknown etiology. magnetic resonance imaging showed evidence of hypertrophy of the inferior olivary nuclei, brain stem atrophy, and marked cerebellar atrophy. This combination of progressive multiple cranial nerve palsies, cerebellar ataxia, and PT has never been reported in the literature. We have also reviewed the literature of PT secondary to neurodegenerative causes. In a total of 23 patients, the common causes are sporadic olivopontocerebellar atrophy (OPCA; 22%), Alexander's disease (22%), unknown etiology (43.4%), and occasionally progressive supranuclear palsy (4.3%) and spinocerebellar degeneration (4.3%). Most patients present with progressive cerebellar ataxia and approximately two thirds of them have rhythmic tremors elsewhere. ear clicks are observed in 13% and evidence of hypertrophy of the inferior olivary nucleus in 25% of the patients. The common neurodegenerative causes of PT are OPCA/multiple system atrophy, Alexander's disease, and, in most of them, the result of an unknown cause.
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ranking = 0.19999652569012
keywords = progressive supranuclear, supranuclear, supranuclear palsy, palsy
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3/14. Bilateral substantia nigra changes on MRI in a patient with encephalitis lethargica.

    A 33-year-old woman admitted for meningoencephalitis had features of encephalitis lethargica develop on her third day of illness. She had ophthalmoplegia, akinetic mutism, and prominent extrapyramidal signs consisting of lip and hand tremors, cogwheel rigidity, and facial bradykinesia.
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ranking = 0.0020560719556824
keywords = ophthalmoplegia
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4/14. dopamine deficiency in rubral tremor caused by midbrain hemangioma: case report.

    To elucidate the nigrostriatal involvement in rubral tremor, we studied single photon emission computed tomography (SPECT) imaging with [2-[[2-[[[3-(4-chlorophenyl)-8-methyl-8-azabicyclo[3.2.1]oct-2- yl]methyl](2-mercaptoethyl)amino]ethyl]amino]ethanethiolato(3-)- N2,N2',S2,S2']oxo-[1R-(exo-exo)]-[99mTc]technetium ([99mTc]TRODAT-1) in a 70-year-old woman with a midbrain hemangioma. She had developed a slow tremor in her right arm and leg after an episode of hemorrhage at the age of 28. The tremor was 3 to 5 Hz in frequency at rest, which was enhanced by outstretching the limb and action. There was no rigidity or bradykinesia. Neurological examination also revealed mild palsy of the left oculomotor nerve. The magnetic resonance imaging (MRI) of the brain showed a small hemangioma in the left midbrain localized mainly in the substantia nigra. The [99mTc]TRODAT-1 SPECT imaging revealed significantly reduced [99mTc]TRODAT-1 uptake in the left caudate and putamen, but it was only mildly reduced in the right striatum. This reduction in uptake was even more severe than that of patients with Parkinson's disease, and indicated that the dopamine function was markedly impaired in the left nigrostriatal system. The tremor had not progressed over the years, and she responded moderately to treatment with levodopa. We concluded that the rubral tremor in the right extremities was probably caused by a dopamine deficiency in the left nigrostriatal system. This suggests that a dopamine deficiency secondary to the midbrain hemangioma might have contributed to the development of the rubral tremor in this patient.
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ranking = 1.7371549424619E-5
keywords = palsy
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5/14. Niemann-Pick disease type C in adults.

    Although it is often perceived as a paediatric disorder, significant numbers of patients with Niemann-Pick disease type C present for the first time in adult life or survive into adult life. The presentation in these patients differs from that seen in the classical juvenile form of the disease. adult patients are often referred to clinicians with psychosis or other major psychiatric problems. The dystonia with preserved intellectual functioning can be mistaken for other basal ganglia disorders such as Wilson disease. The presence of vertical gaze palsy is an important clinical clue and, in the presence of a modest increase in plasma chitotriosidase activity, can be very helpful in the differential diagnosis. The diagnosis should be confirmed in suspected cases by filipin staining of cultured fibroblasts, as well as cholesterol esterification studies and dna mutation analysis.
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ranking = 1.7371549424619E-5
keywords = palsy
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6/14. Progressive ataxia and palatal tremor (PAPT): clinical and MRI assessment with review of palatal tremors.

    Palatal tremor has been subdivided into essential (EPT) and symptomatic palatal tremor (SPT). A subgroup of the SPT form has a syndrome of progressive ataxia and palatal tremor (PAPT). Published details of cases of PAPT are sparse and the disorder appears heterogeneous. We present clinical and MRI features of six patients with sporadic PAPT who attended The University health Network between 1991 and 2002. eye movements were recorded using a magnetic search coil technique. We review previously reported cases of PAPT from the English language literature and relate this disorder to EPT and SPT. PAPT may be divided into sporadic and familial forms. We identified 22 other prior reported cases of sporadic PAPT. Sporadic PAPT is a subtype of SPT in which progressive cerebellar degeneration is the most symptomatic feature. A combination of vertical nystagmus and palatal tremor was found in one of our cases. Internuclear ophthalmoplegia, a new finding, was present in two of our patients and indicated additional brainstem dysfunction. Inferior olivary high signal abnormalities were present on MRI in all of our cases. The cause of sporadic PAPT remains uncertain. In some previous reports of sporadic PAPT, the combination of brainstem or pontine atrophy, parkinsonism, autonomic dysfunction or corticospinal tract abnormalities suggests a diagnosis of multiple system atrophy, although pathological verification is lacking. Familial PAPT is associated with marked brainstem and cervical cord atrophy with corticospinal tract findings, but the typical olivary MRI abnormalities have not been reported. A substitution in the glial fibrillary acidic protein (GFAP) gene has been described in a family with PAPT, raising the possibility of Alexander's disease. One other familial syndrome of PAPT, termed 'dark dentate disease', has also been reported. PAPT is a subgroup of SPT in which ataxia progresses and is not usually the result of a monophasic illness. Eye movement abnormalities suggest a disorder of both the cerebellum and brainstem. Familial PAPT differs from sporadic PAPT in having marked atrophy of cervical cord and brainstem with corticospinal signs but without hypertrophic olivary appearance on MRI.
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ranking = 0.0020560719556824
keywords = ophthalmoplegia
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7/14. Dominant inheritance of premature ovarian failure associated with mutant mitochondrial dna polymerase gamma.

    BACKGROUND: Premature ovarian failure (POF) results in menopause before the age of 40. Recently, mutations in the catalytic subunit of mitochondrial dna polymerase gamma (POLG) were shown to segregate with POF in families with progressive external ophthalmoplegia (PEO) and multiple large-scale rearrangements of mitochondrial dna (mtDNA). methods AND RESULTS: A patient, mother and maternal grandmother are described, all presenting with POF and PEO. The mother developed parkinsonism in her sixth decade. Normal mtDNA sequence excluded mitochondrial inheritance. sequence analysis of polymerase gamma revealed a dominant Y955C mutation that segregated with disease. Southern blot analysis demonstrated mtDNA depletion in fibroblasts (43% of controls). In contrast, multiple rearrangements of mtDNA were seen in skeletal muscle, consistent with the relative sparing of nuclear-encoded complex II activity compared with other respiratory chain enzymes. immunoblotting of native gels showed that dna polymerase gamma stability was not affected, whereas a reverse-transcriptase primer-extension assay suggested a trend towards reduced polymerase activity in fibroblasts. CONCLUSIONS: This study confirms that POLG mutations can segregate with POF and parkinsonism and demonstrates for the first time that the Y955C mutation can lead to mtDNA depletion. Future screening projects will determine the frequency with which POLG is involved in the aetiology of POF and its impact on reproductive counselling.
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ranking = 0.0020560719556824
keywords = ophthalmoplegia
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8/14. Early-onset familial parkinsonism due to POLG mutations.

    OBJECTIVE: To define the molecular etiology of early-onset parkinsonism and peripheral neuropathy. methods: Two sisters had early-onset parkinsonism (dystonic toe curling, action tremor, masked face, bradykinesia, stooped posture, and rigidity), together with clinical and electrophysiological signs of sensorimotor axonal peripheral neuropathy. RESULTS: No mutations were found in the genes for parkin or PINK1. Muscle biopsies showed ragged-red and cytochrome c oxidase-negative fibers, and biochemistry showed decreased activities of respiratory chain complexes containing mitochondrial dna-encoded subunits. Multiple mitochondrial dna deletions were seen by long polymerase chain reaction, and sequencing of the POLG gene showed that the patients were compound heterozygous for two patogenic mutations. INTERPRETATION: POLG mutations can cause early-onset parkinsonism in the absence of progressive external ophthalmoplegia.
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ranking = 0.0020560719556824
keywords = ophthalmoplegia
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9/14. Complete external ophthalmoplegia and asterixis with carbamazepine toxicity.

    ophthalmoplegia is a rarely observed sign in carbamazepine and other anticonvulsant overdoses. We present a patient who developed transient complete external ophthalmoplegia and asterixis with relative preservation of consciousness, in association with carbamazepine toxicity. Previously reported cases and proposed mechanisms are reviewed.
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ranking = 0.010280359778412
keywords = ophthalmoplegia
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10/14. tremor in progressive supranuclear palsy.

    Reports of tremor in progressive supranuclear palsy (PSP) have been infrequent; some authors indicate that tremor is never seen in PSP. Five patients with PSP and tremor are presented. Our series of cases and those reviewed in the literature suggest that tremor occurs in 12-16% of PSP cases. The rest tremor observed in 3 of our cases differed from the "pill-rolling" and "parkinsonian tremor" described in previously reported cases by being slower in rate (3 per second or less). This slow rest tremor is rarely seen in Parkinson's disease (4-6 per second). Our experience suggests that, contrary to previous opinions, tremor may be the presenting complaint and a prominent finding in PSP and the presence or absence of tremor is of no value in the differential diagnosis of PSP from Parkinson's disease.
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ranking = 0.99998262845058
keywords = progressive supranuclear, supranuclear, supranuclear palsy, palsy
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