Clinical features of Huntington disease in 243 Chinese patients

OBJECTIVE： To thoroughly explore the clinical characteristics of Huntington disease in China. METHODS： A computer-based online search of China National Knowledge Infrastructure was performed to review case reports concerning Huntington disease published between 1980 and 2008; the clinical characteristics were analyzed. RESULTS： A total of 80 studies involving 243 patients （142 males and 101 females） were collected, 82.0% of which were from provinces of North China. In addition, 97.1% of the cases had a family history of Huntington disease, and paternal inheritance （64.6%） was greater than maternal inheritance （35.4%）. Moreover, onset age was significantly less than from maternal inheritance. The mean onset age of Huntington disease was （35.2 ± 11.5） years, mean age of death was （45.6 ± 13.5） years, and the mean course of disease from onset to death was （11.6 ± 5.6） years. Onset characterized by involuntary movement accounted for 47.7%, including 66.4% in the entire body, 16.4% in the upper limbs, and 14.7% in the head and face. Psychiatric symptoms accounted for 18.1%, and disturbed intelligence accounted for 2.1%. With disease progression, 99.5% of patients exhibited involuntary movement, 69.8% displayed cognitive impairment, and 39.2% suffered from psychiatric symptoms. In addition, 38.7% of patients were complicated by dysarthria, dysphagia, and cough after drinking. A total of 70.8% of patients exhibited an abnormal electroencephalogram, 18.8% had mild abnormalities in the cerebrospinal fluid, and 70.1% displayed brain atrophy and lateral ventriculomegaly on CT or MRI. A total of 88.9% of patients scored ≤ 23 in the Mini-Mental State Examination （MMSE）. Of the reported patients, only 22 underwent/T15 gene testing with positive results. CONCLUSION： Huntington disease is more frequently detected in males than females, and the majority has a family history. The disease has high incidence in Northern China, in particular with paternal inheritance. In addition, the disease often struck middle-aged people, and the time of onset in paternal inheritance was earlier than maternal inheritance. There were no significant differences in age of onset between males and females, and the course of disease was not related to paternal or maternal inheritance. The symptoms of onset included involuntary movement, complicated by psychiatric symptoms, and rarely cognitive impairment. In addition, involuntary movement of the pharynx was commonly observed in patients. Genetic detection has been the gold standard for clinical diagnosis of Huntington disease, and more attention should be paid to this detection method.

Clinical features of progressive supranuclear palsy in 105 Chinese patients

OBJECTIVE： To thoroughly investigate clinical characteristics of progressive supranuclear palsy （PSP） in a Chinese population. METHODS： Computer-based online searches through China National Knowledge Infrastructure and Weipu Periodical Database were performed to collect case reports of PSP published between 1980 and 2009. Clinical characteristics were analyzed. RESULTS： A total of 58 studies comprising 105 patients （76 males and 29 females） were included. All cases were sporadic and free of family history. The mean age at onset was 60.6 _＋ 9.1 years, and the mean course from onset of symptoms to diagnosis was 3.4 ＋ 2.4 years. The male-to-female ratio was approximately 3： 1. Onset was characterized by akinetic-dgid features and accounted for 34.3% of all cases, followed by early postural instability （25.5%）, pseudobulbar palsy （9.8%）, cognitive impairment （9.8%）, and vertical supranuclear ophthalmoplegia （7.8%）. With disease progression, vertical supranuclear ophthalmoplegia was reported in 95.1% of cases, followed by akinetic-rigid features （83.3%）, pseudobulbar palsy （82.4%）, axial dystonia （75.5%）, cognitive impairment （72.5%）, and early postural instability （69.6%）. A total of 70.5% of patients exhibited abnormal electroencephalograms, and 21.4% exhibited mild abnormalities in cerebrospinal fluid. Brain CT scanning results of 37 patients showed 37.8% with midbrain and concurrent cerebral hemisphere atrophy, and 5.4% and 24.3% with midbrain and cerebral hemisphere atrophy, respectively. Brain MRI scanning results of 55 patients revealed a total of 16.4% patients with midbrain atrophy, 23.6% with midbrain and concurrent cerebral hemisphere atrophy, 32.7% with cerebral hemisphere atrophy, and 11% with brainstem atrophy. The percentage of midbrain atrophy revealed by MRI was greater than by CT. All 11 patients subjected to Mini-Mental State Examination scored 〈 23. A total of 10 patients underwent brain electrophysiological examination, and 80% presented with abnormalities of cerebral-evoked potential. A total of 33.3% patients presented with neurogenic damage of anal sphincter electromyography. Nine cases were neuropathologically diagnosed, and all displayed tau-positive argyrophilic globous neurofibrillary tangles, tuft-shaped astrocytes, and coiled bodies. Gene diagnosis was not performed. A total of 40 patients were misdiagnosed, including 23 （58%） as Parkinson＇s disease and seven （18%） as Parkinsonism; 44 patients were treated by madopar, artane, or amantadine, and only seven （16%） improved in movement. No patients exhibited improved eye movement. Of 4 patients treated with madopar and dopa agonists, 2 improved in movement. In addition, movement improved in 3 patients treated with madopar and monoamine oxidase B. CONCLUSION： PSP is a sporadic disease that often strikes middle or elderly individuals. There are no significant differences in age of onset between male and female patients, although disease progression is more rapid in female patients, likely because the time from symptom onset to disease diagnosis in females is less than in male. Akinetic-rigid features and early postural instability are the most common symptoms of onset. With disease progression, the incidence of vertical supranuclear ophthalmoplegia and akinetic-rigid features increases. MRI is a common, sensitive, and noninvasive supplemental test. However, PSP is frequently misdiagnosed as Parkinson＇s disease or Parkinsonism during the early stage, and anti-Parkinson treatments remain ineffective.

Clinical features of dementia with lewy bodies in 35 Chinese patients

Objective:To investigate the clinical features of dementia with Lewy bodies(DLB)in a Chinese population.Methods:Computer-based online searches through China Biology Medicine disc and China National Knowledge Infrastructure were performed to collect case reports of DLB published between 1980 and 2012.Clinical characteristics were analyzed.Results:A total of 18 studies comprising 35 patients(26 males and 9 females)were included.The mean age at onset was 67.2±9.8 years.Onset was characterized by memory impairment and accounted for 58.8%of all cases,followed by parkinsonism(11.8%),visual hallucinations(8.8%),and compulsive personality disorder(2.9%).The other patients(17.6%)presented two of the three core features of DLB at onset.With disease progression,parkinsonism was reported in 100%of cases,followed by visual hallucinations(97.1%),psychiatric symptoms(85.7%),severe neuroleptic sensitivity(81.8%),fluctuating cognition(68.6%),repeated falls(40.0%),sleep disorders(22.9%),and transient loss of consciousness(17.1%).26 patients who were subjected to Mini-Mental State Examination scored≤24.10 patients presented relative preservation of hippocampus and medial temporal lobe structures on CT/MRI scan.Occipital hypometabolism occurred in 2 of 3 patients who underwent SPECT/PET perfusion scan.12 patients showed an increasing of slow frequency activity on EEG,prominently in frontal and temporal lobes.Conclusions:DLB often strikes elderly individuals.Its clinical core features are dementia,fluctuating cognition,recurrent visual hallucinations and spontaneous features of parkinsonism.Neuropsychological,neuroimaging and EEG examinations may improve the diagnostic accuracy and discriminate DLB from other dementias.