Fatigue may be induced by drug. Here, we reported that patients had fatigue after medication with... more Fatigue may be induced by drug. Here, we reported that patients had fatigue after medication with colchicines. Eight patients (8 Males, age: 42-72 years old) had fatigue but without weakness as their chief complaints. They all described an inability to maintain a sustained effort, which was ameliorated by rest. The course of fatigue was insidious and progressive (mean 3.1 2.3 months, range 1-7 months) along with medication of colchicines (mean 20.3 5.5 months, range 11-28 months). Fatigue severity scale (patient: before drug withdrawal 5.41 0.19; 4 weeks after drug withdrawal 2.46 0.28; control 2.12 0.45) showed fatigue as their most disabling symptom, sometimes preventing them to carry on professional as well as socio-familial activities. The plasma creatine kinase elevated in these 8 patients before withdrawal of colchicines and returned to normal range in each subject 4 weeks after drug withdrawal. A probable diagnosis of drug-induced fatigue was made when symptom subsided after ...
Zhonghua yi xue za zhi = Chinese medical journal; Free China ed
Hu man os cil la tor could be ob served in and out - side the ner vous sys tem. Ab nor mal os cil... more Hu man os cil la tor could be ob served in and out - side the ner vous sys tem. Ab nor mal os cil la tor dis charges of heart may pro duce car diac ar rhyth mia and of ner vous sys tem may pro duce move ment dis or - ders, such as tremor. Clin i cal and phys io log i cal stud - ies ...
Traumatic isolated oculomotor nerve palsy with negative imaging studies is extremely rare. We rep... more Traumatic isolated oculomotor nerve palsy with negative imaging studies is extremely rare. We reported such a case who after head injury had normal brain computerized tomography (CT), magnetic resonance imaging (MRI), and angiography. The absence of other neurological signs and normal brain MRI indicated the lesion was most likely within the subarachnoid space, as the other important structures near the third nerve, such as the brainstem, cavernous sinus and orbit, were undamaged. The prognosis of traumatic oculomotor palsy is usually poor. Generally speaking, patients experience more rapid and complete recovery of ptosis than of extraocular movements, while pupillary size and light reflex show the least degree of recovery. Further case collections with modern imaging studies are needed to clarify the mechanisms and clinical characteristics associated with this phenomenon.
Mutations in the GARS gene have been identified in a small number of patients with Charcot-Marie-... more Mutations in the GARS gene have been identified in a small number of patients with Charcot-Marie-Tooth disease (CMT) type 2D or distal spinal muscular atrophy type V, for whom disease onset typically occurs during adolescence or young adulthood, initially manifesting as weakness and atrophy of the hand muscles. The role of GARS mutations in patients with inherited neuropathies in Taiwan remains elusive. Mutational analyses of the coding regions of GARS were performed using targeted sequencing of 54 patients with molecularly unassigned axonal CMT, who were selected from 340 unrelated CMT patients. Two heterozygous mutations in GARS, p.Asp146Tyr and p.Met238Arg, were identified; one in each patient. Both are novel de novo mutations. The p.Asp146Tyr mutation is associated with a severe infantile-onset neuropathy and the p.Met238Arg mutation results in childhood-onset disability. GARS mutations are an uncommon cause of CMT in Taiwan. The p.Asp146Tyr and p.Met238Arg mutations are associa...
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADAS... more Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is originally featured with a strong clustering of mutations in NOTCH3 exons 3-6 and leukoencephalopathy with frequent anterior temporal pole involvement. The present study aims at characterizing the genotypic and phenotypic profiles of CADASIL in Taiwan. One hundred and twelve patients with CADASIL from 95 families of Chinese descents in Taiwan were identified by Sanger sequencing of exons 2 to 24 of NOTCH3. Twenty different mutations in NOTCH3 were uncovered, including 3 novel ones, and R544C in exon 11 was the most common mutation, accounting for 70.5% of the pedigrees. Haplotype analyses were conducted in 14 families harboring NOTCH3 R544C mutation and demonstrated a common haplotype linked to NOTCH3 R544C at loci D19S929 and D19S411. Comparing with CADASIL in most Caucasian populations, CADASIL in Taiwan has several distinct features, including less frequent anterior temporal in...
Postpartum arterial dissection combined with subarachnoid hemorrhage (SAH) is rare and its mechan... more Postpartum arterial dissection combined with subarachnoid hemorrhage (SAH) is rare and its mechanism is uncertain. A 32 year-old woman had a delivery by cesarean section 12 days prior to admission to our hospital. From the first day of delivery, she breast-fed her baby, sitting with her head always turned to the right. Each feeding lasted around 2 hours. A bilateral throbbing headache began two days after childbirth, and intermittent numbness of the right face, chest and hand as well as weakness of the right hand developed nine days after giving birth. A physical examination revealed transient mild hypertension and right hemiparesis. Her cholesterol ranged from 204 to 263 mg/dl. Computed tomography, magnetic resonance angiography and duplex ultrasound disclosed left fronto-parietal junction SAH and dissections of the right internal carotid (ICA) and vertebral arteries. Our patient demonstrated (1) that postpartum arterial dissection was not limited to natural delivery, (2) postpartu...
Mutations in the MATR3 gene were just recently identified to cause familial amyotrophic lateral s... more Mutations in the MATR3 gene were just recently identified to cause familial amyotrophic lateral sclerosis, and their role in amyotrophic lateral sclerosis (ALS) in various populations remains unclear. The aim of this study was to determine the frequency and spectrum of mutations in MATR3 in a Taiwanese ALS cohort of Han Chinese origin. Mutational analyses of MATR3 were carried out by direct nucleotide sequencing in a cohort of 207 unrelated patients with ALS. Among them, the genetic diagnoses of 169 patients remained elusive after mutations in SOD1, C9ORF72, TARDBP, FUS, ATXN2, OPTN, VCP, UBQLN2, SQSTM1, PFN1, HNRNPA1, and HNRNPA2B1 had been excluded. We identified 1 heterozygous missense mutation, p.Ala72Thr (c.214G>A), in 1 patient with bulbar-onset and apparently sporadic ALS. The frequency of MATR3 mutations in ALS patients in Taiwan is, therefore, approximately 0.5% (1 of 207). This study reports a novel MATR3 mutation and stresses on the importance to consider MATR3 mutatio...
We report a patient with general paresis, whose magnetic resonance image (MRI) showed a T2 high-i... more We report a patient with general paresis, whose magnetic resonance image (MRI) showed a T2 high-intensity lesion in bilateral mesial temporal regions. Serum rapid plasma reagin test showed reactive at 64 dilutions and serum Treponema pallidum haemagglutination test was 1:20480. Cerebrospinal fluid analysis showed: RBC 111/mm3, WBC 8/mm3, Venereal Disease Research Laboratory reactive at 1 dilution and protein 60 mg/dl. His neuropsychiatric symptoms recovered gradually after penicillin treatment two months later. Repeated MRI revealed resolution of the bilateral mesial temporal lesions. We demonstrated the first Taiwanese patient with general paresis whose clinical improvement was associated with the disappearance of the temporal lobe MRI abnormality. The diagnosis of neurosyphilis must be considered when MRI shows mesial temporal lesions. MRI may be used to predict prognosis in patients with general paresis.
Parkinsonian variant of multiple system atrophy (MSA-P) clinically presents as autonomic dysfunct... more Parkinsonian variant of multiple system atrophy (MSA-P) clinically presents as autonomic dysfunction with parkinsonian features. Parkinsonian features include bradykinesia, rigidity, tremor, postural instability and poor levo-dopa response. Neuropathologically, MSA-P is characterized by selective neuronal loss and gliosis mainly affecting the putamen and caudate nucleus, substantia nigra, olivopontocerebellar pathway and intermediolateral cell column of the spinal cord. Therefore, the target of magnetic resonance imaging (MRI) is focused on signal changes or volume reduction on putamen, including putaminal slit, gliosis by diffusion studies and reduction of putaminal volume. There have been no reports describing clinical manifestations of MSA-P with imaging abnormalities over globus pallidus. Here, we describe three patients with typical presentations of MSA-P with autonomic dysfunction and disturbances of axial motor function with minimal appendicular symptoms, including postural instability and gait difficulties. MRI showed symmetrical hyperintensity over the center of globus pallidus surrounded by a mild low-signal rims at T2-weighted image that is similar to that of eye of the tiger sign except for the marked hypointense rims. Dopamine transporter scans showed symmetric reduction of uptake over bilateral basal ganglia. This is the first report concerning these unusual imaging findings in MSA-P patients and we believe there is a subgroup of MSA-P with clinical presentation of axial impairment and symmetrically abnormal signal changes of globus pallidus in MRI.
Fatigue may be induced by drug. Here, we reported that patients had fatigue after medication with... more Fatigue may be induced by drug. Here, we reported that patients had fatigue after medication with colchicines. Eight patients (8 Males, age: 42-72 years old) had fatigue but without weakness as their chief complaints. They all described an inability to maintain a sustained effort, which was ameliorated by rest. The course of fatigue was insidious and progressive (mean 3.1 2.3 months, range 1-7 months) along with medication of colchicines (mean 20.3 5.5 months, range 11-28 months). Fatigue severity scale (patient: before drug withdrawal 5.41 0.19; 4 weeks after drug withdrawal 2.46 0.28; control 2.12 0.45) showed fatigue as their most disabling symptom, sometimes preventing them to carry on professional as well as socio-familial activities. The plasma creatine kinase elevated in these 8 patients before withdrawal of colchicines and returned to normal range in each subject 4 weeks after drug withdrawal. A probable diagnosis of drug-induced fatigue was made when symptom subsided after ...
Zhonghua yi xue za zhi = Chinese medical journal; Free China ed
Hu man os cil la tor could be ob served in and out - side the ner vous sys tem. Ab nor mal os cil... more Hu man os cil la tor could be ob served in and out - side the ner vous sys tem. Ab nor mal os cil la tor dis charges of heart may pro duce car diac ar rhyth mia and of ner vous sys tem may pro duce move ment dis or - ders, such as tremor. Clin i cal and phys io log i cal stud - ies ...
Traumatic isolated oculomotor nerve palsy with negative imaging studies is extremely rare. We rep... more Traumatic isolated oculomotor nerve palsy with negative imaging studies is extremely rare. We reported such a case who after head injury had normal brain computerized tomography (CT), magnetic resonance imaging (MRI), and angiography. The absence of other neurological signs and normal brain MRI indicated the lesion was most likely within the subarachnoid space, as the other important structures near the third nerve, such as the brainstem, cavernous sinus and orbit, were undamaged. The prognosis of traumatic oculomotor palsy is usually poor. Generally speaking, patients experience more rapid and complete recovery of ptosis than of extraocular movements, while pupillary size and light reflex show the least degree of recovery. Further case collections with modern imaging studies are needed to clarify the mechanisms and clinical characteristics associated with this phenomenon.
Mutations in the GARS gene have been identified in a small number of patients with Charcot-Marie-... more Mutations in the GARS gene have been identified in a small number of patients with Charcot-Marie-Tooth disease (CMT) type 2D or distal spinal muscular atrophy type V, for whom disease onset typically occurs during adolescence or young adulthood, initially manifesting as weakness and atrophy of the hand muscles. The role of GARS mutations in patients with inherited neuropathies in Taiwan remains elusive. Mutational analyses of the coding regions of GARS were performed using targeted sequencing of 54 patients with molecularly unassigned axonal CMT, who were selected from 340 unrelated CMT patients. Two heterozygous mutations in GARS, p.Asp146Tyr and p.Met238Arg, were identified; one in each patient. Both are novel de novo mutations. The p.Asp146Tyr mutation is associated with a severe infantile-onset neuropathy and the p.Met238Arg mutation results in childhood-onset disability. GARS mutations are an uncommon cause of CMT in Taiwan. The p.Asp146Tyr and p.Met238Arg mutations are associa...
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADAS... more Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is originally featured with a strong clustering of mutations in NOTCH3 exons 3-6 and leukoencephalopathy with frequent anterior temporal pole involvement. The present study aims at characterizing the genotypic and phenotypic profiles of CADASIL in Taiwan. One hundred and twelve patients with CADASIL from 95 families of Chinese descents in Taiwan were identified by Sanger sequencing of exons 2 to 24 of NOTCH3. Twenty different mutations in NOTCH3 were uncovered, including 3 novel ones, and R544C in exon 11 was the most common mutation, accounting for 70.5% of the pedigrees. Haplotype analyses were conducted in 14 families harboring NOTCH3 R544C mutation and demonstrated a common haplotype linked to NOTCH3 R544C at loci D19S929 and D19S411. Comparing with CADASIL in most Caucasian populations, CADASIL in Taiwan has several distinct features, including less frequent anterior temporal in...
Postpartum arterial dissection combined with subarachnoid hemorrhage (SAH) is rare and its mechan... more Postpartum arterial dissection combined with subarachnoid hemorrhage (SAH) is rare and its mechanism is uncertain. A 32 year-old woman had a delivery by cesarean section 12 days prior to admission to our hospital. From the first day of delivery, she breast-fed her baby, sitting with her head always turned to the right. Each feeding lasted around 2 hours. A bilateral throbbing headache began two days after childbirth, and intermittent numbness of the right face, chest and hand as well as weakness of the right hand developed nine days after giving birth. A physical examination revealed transient mild hypertension and right hemiparesis. Her cholesterol ranged from 204 to 263 mg/dl. Computed tomography, magnetic resonance angiography and duplex ultrasound disclosed left fronto-parietal junction SAH and dissections of the right internal carotid (ICA) and vertebral arteries. Our patient demonstrated (1) that postpartum arterial dissection was not limited to natural delivery, (2) postpartu...
Mutations in the MATR3 gene were just recently identified to cause familial amyotrophic lateral s... more Mutations in the MATR3 gene were just recently identified to cause familial amyotrophic lateral sclerosis, and their role in amyotrophic lateral sclerosis (ALS) in various populations remains unclear. The aim of this study was to determine the frequency and spectrum of mutations in MATR3 in a Taiwanese ALS cohort of Han Chinese origin. Mutational analyses of MATR3 were carried out by direct nucleotide sequencing in a cohort of 207 unrelated patients with ALS. Among them, the genetic diagnoses of 169 patients remained elusive after mutations in SOD1, C9ORF72, TARDBP, FUS, ATXN2, OPTN, VCP, UBQLN2, SQSTM1, PFN1, HNRNPA1, and HNRNPA2B1 had been excluded. We identified 1 heterozygous missense mutation, p.Ala72Thr (c.214G>A), in 1 patient with bulbar-onset and apparently sporadic ALS. The frequency of MATR3 mutations in ALS patients in Taiwan is, therefore, approximately 0.5% (1 of 207). This study reports a novel MATR3 mutation and stresses on the importance to consider MATR3 mutatio...
We report a patient with general paresis, whose magnetic resonance image (MRI) showed a T2 high-i... more We report a patient with general paresis, whose magnetic resonance image (MRI) showed a T2 high-intensity lesion in bilateral mesial temporal regions. Serum rapid plasma reagin test showed reactive at 64 dilutions and serum Treponema pallidum haemagglutination test was 1:20480. Cerebrospinal fluid analysis showed: RBC 111/mm3, WBC 8/mm3, Venereal Disease Research Laboratory reactive at 1 dilution and protein 60 mg/dl. His neuropsychiatric symptoms recovered gradually after penicillin treatment two months later. Repeated MRI revealed resolution of the bilateral mesial temporal lesions. We demonstrated the first Taiwanese patient with general paresis whose clinical improvement was associated with the disappearance of the temporal lobe MRI abnormality. The diagnosis of neurosyphilis must be considered when MRI shows mesial temporal lesions. MRI may be used to predict prognosis in patients with general paresis.
Parkinsonian variant of multiple system atrophy (MSA-P) clinically presents as autonomic dysfunct... more Parkinsonian variant of multiple system atrophy (MSA-P) clinically presents as autonomic dysfunction with parkinsonian features. Parkinsonian features include bradykinesia, rigidity, tremor, postural instability and poor levo-dopa response. Neuropathologically, MSA-P is characterized by selective neuronal loss and gliosis mainly affecting the putamen and caudate nucleus, substantia nigra, olivopontocerebellar pathway and intermediolateral cell column of the spinal cord. Therefore, the target of magnetic resonance imaging (MRI) is focused on signal changes or volume reduction on putamen, including putaminal slit, gliosis by diffusion studies and reduction of putaminal volume. There have been no reports describing clinical manifestations of MSA-P with imaging abnormalities over globus pallidus. Here, we describe three patients with typical presentations of MSA-P with autonomic dysfunction and disturbances of axial motor function with minimal appendicular symptoms, including postural instability and gait difficulties. MRI showed symmetrical hyperintensity over the center of globus pallidus surrounded by a mild low-signal rims at T2-weighted image that is similar to that of eye of the tiger sign except for the marked hypointense rims. Dopamine transporter scans showed symmetric reduction of uptake over bilateral basal ganglia. This is the first report concerning these unusual imaging findings in MSA-P patients and we believe there is a subgroup of MSA-P with clinical presentation of axial impairment and symmetrically abnormal signal changes of globus pallidus in MRI.
Uploads
Papers by Yi-chung Lee