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SCA-12: Tremor with cerebellar and cortical atrophy is associated with a CAG repeat expansion.
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OBJECTIVE
To characterize the clinical and neuroradiologic features of a new spinocerebellar ataxia, SCA-12, in the index family.
BACKGROUND
The authors recently linked SCA-12 to a novel CAG repeat expansion on chromosome 5q31-33 that is located within the 5' region of PPP2R2B, a gene encoding a
The Characteristics of Tremor Motion Help Identify Parkinson's Disease and Multiple System Atrophy
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Background/Objectives: Distinguishing between Parkinson's disease (PD) and multiple system atrophy (MSA) is challenging in the clinic because patients with these two conditions present with similar symptoms in motor dysfunction. Here, we aimed to determine whether tremor characteristics can
[An elderly case of juvenile muscular atrophy in the unilateral upper extremity with tremor in both hands].
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A 75-year-old man had noticed muscle atrophy and weakness of his right hand and forearm at the age of 25. The symptoms slowly progressed and then stopped. Right hand tremor appeared at about age 40. There was no symptom in his left upper extremity, and his gait was normal. He now shows severe muscle
[An autopsied case of progressive spinal muscular atrophy showing tremor and choreiform movement].
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A 42-year-old man without family history of neurologic disease developed muscle weakness, and wasting associated with tremor and choreiform movement. He died at age 75 with 33 years of total duration of illness. Autopsy revealed neuronal loss and gliosis in the anterior horns of the spinal cord,
Tremor in Multiple System Atrophy - a review.
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BACKGROUND
Multiple system atrophy (MSA) is a rare neurodegenerative movement disorder characterized by a rapidly progressive course. The clinical presentation can include autonomic failure, parkinsonism, and cerebellar signs. Differentiation from Parkinson's disease (PD) is difficult if there is
Genetic association study of glucocerebrosidase gene L444P mutation in essential tremor and multiple system atrophy in mainland China.
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The glucocerebrosidase (GBA) gene mutation is emerging as an important risk factor for Parkinson's disease. We previously reported that the GBA gene L444P mutation is an important risk factor for PD in the Chinese population. The prevalence of this mutation in other neurodegenerative diseases and
Reversible Cerebral Atrophy in Infantile Tremor Syndrome.
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BACKGROUND
We report changes in MRI brain of children with Infantile Tremor Syndrome (ITS) at the onset of illness and following treatment.
METHODS
Three children with infantile tremor syndrome were assessed for changes in brain neuroimaging at admission and at follow-up visit. On MRI, all children
Postural tremor in X-linked spinal and bulbar muscular atrophy.
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Postural tremor is a common initial symptom in spinal and bulbar muscular atrophy (SBMA), but its pathophysiological mechanisms remain to be studied. This study was undertaken to examine the physiological mechanisms underlying postural tremor in SBMA. For eight patients (36-63 years old) with
Delayed and enhanced long latency reflexes as the possible cause of postural tremor in late cerebellar atrophy.
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The pathophysiology of postural tremor was studied in 7 patients with cortical cerebellar atrophy, and compared with the responses of 14 healthy control subjects to the same tests. Both tibial nerves were simultaneously and selectively stimulated in the fossa poplitea. EMG was recorded from agonist
Congenital tremor with spongy degeneration of the central nervous system in two puppies.
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Two crossbred puppies exhibited a generalized tremor that was accentuated by excitement or voluntary movement. Hypermetria was also present. Neurohistologic examination showed a bilaterally symmetric spongy condition, predominantly of the gray matter in the brain and spinal cord. These two dogs were
3-Hz postural tremor in multiple system atrophy cerebellar type (MSA-C)-a static posturography study.
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The objective of the study is to evaluate postural dysfunction of multiple system atrophy-parkinsonian type (MSA-P) and cerebellar type (MSA-C) by static posturography exam. A total of 29 MSA-P patients, 40 MSA-C patients, and 23 healthy controls (HC) were recruited and engaged in a sensory
SLC1A2 rs3794087 are associated with susceptibility to Parkinson's disease, but not essential tremor, amyotrophic lateral sclerosis or multiple system atrophy in a Chinese population.
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BACKGROUND
The association between the polymorphism rs3794087 in the solute carrier family 1, member 2 (SLC1A2) and the risk of essential tremor (ET) among different studies is controversial. Considering the overlap of the clinical manifestations and pathological characteristics of ET, Parkinson's
Thalamic deep brain stimulation for midbrain tremor secondary to cystic degeneration of the brainstem.
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OBJECTIVE
Tremor resulting from damage to midbrain structures is poorly understood and often difficult to treat. The authors report a case of cystic degeneration of the brainstem with resultant Holmes-like tremor which was successfully treated using a stimulating electrode placed in the
Postural leg tremor in X-linked spinal and bulbar muscular atrophy.
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X-linked spinal and bulbar muscular atrophy (SBMA) is an adult-onset neuromuscular disorder caused by a CAG repeat expansion in the androgen receptor gene. Postural hand tremor is well known as a non-motor neuron sign, but to our knowledge postural leg tremor has not been reported. We studied the
An autopsy case of peroneal muscular atrophy with rigidity and tremor. Ultrastructural and systematic morphometrical studies on peripheral nerves.
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An autopsy case of hereditary peroneal muscular atrophy (PMA) with rigidity and static tremor is presented. The patient developed slowly progressive distal muscular atrophy of the legs at the age of 15 years. By the age of 52 years, PMA became marked associated with pes cavus, and tremor and
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