2016年 · 第49卷第04期

In recent years, as the representative of chronic non-communicable diseases, the diagnosis and treatment practice of movement disorders represented by Parkinson's disease is gradually being included in the category of long-term management. From initial diagnosis to follow-up, from patient education to caregiver training, from informed consent to treatment to hospice care of patients, a continuous, comprehensive and multi-party participation diagnosis and treatment behavior is increasingly becoming the norm of the diagnosis and treatment of movement disorders, and the "rules" followed by this are a series of recognized diagnosis and treatment guidelines and expert consensus. In a word, the fundamental purpose of the formulation of guidelines and consensus is to improve the quality of clinical diagnosis and treatment, reduce medical-related complications, and standardize the diagnosis and treatment behavior of diseases to obtain the best efficacy and prognosis.

Parkinson's disease (Parkinson's disease) is a common neurodegenerative disease. The prevalence rate of people over 65 years of age in China is 1,700/100,000, and it increases with age, which brings a heavy burden to families and society^[1]。 The main pathological changes of the disease are the loss of dopaminergic neurons and the formation of Lewy bodies in the dense part of the substantia nigra, and the main biochemical changes are the decrease of dopamine transmitters in the striatal region. The clinical symptoms include quiescent tremor, myotonia, bradykinesia and motor symptoms of postural balance disorder^[2]And non-motor symptoms such as anosmia, abnormal sleep behavior during rapid eye movement, constipation and depression^[3]。 In the past 10 years, there has been a deeper and comprehensive understanding of the pathology and pathophysiology, clinical manifestations and diagnostic techniques of Parkinson's disease at home and abroad. In order to better standardize the diagnosis and differential diagnosis of Parkinson's disease by Chinese clinicians, we based on the clinical diagnostic criteria of Parkinson's disease in UK brain bank, referred to the new clinical diagnostic criteria of Parkinson's disease introduced by the International Society of Movement Disorders (MDS) in 2015, and combined with the actual situation in China, the 2006 edition of the diagnostic criteria of Parkinson's disease in China^[4]Updated.

progressive supranuclear palsy (PSP) is a common atypical Parkinson's syndrome. It is reported that the prevalence rate in Japan is 2~17/100,000, which is higher than that in Europe and America, which is 3.1~6.5/100,000^[1]However, there is no definite epidemiological data in China at present. The onset age of PSP is generally 50-70 years old, and the average course of the disease is 5-9 years^[2,3]The characteristic clinical manifestation is vertical supranuclear ophthalmoplegia with postural instability and easiness to fall. However, in recent years, case studies based on pathological diagnosis have shown that the clinical manifestations of PSP are quite variable, among which typical PSP (Richardson's syndrome) accounts for about 2/3, while others are mainly characterized by Parkinson's syndrome, pure hypomobility with frozen gait, corticobasal ganglia syndrome, non-fluent variant primary progressive aphasia, frontotemporal dysfunction and cerebellar ataxia in the early stage, and are easily misdiagnosed as Parkinson's disease (Parkinson's disease) and other neurodegenerative diseases: such as multiple system atrophy (MSA), corticobasal degeneration (CBD), frontotemporal dementia (FTD), etc.^[4,5]。 Pathological diagnosis is still the "gold standard" in the diagnosis of PSP, and there is still a lack of objective biological markers in clinical practice. As the understanding of the clinical phenotype of PSP advances, a variety of clinical diagnostic criteria for PSP, including those recommended by the National Institute of Neurological Diseases and Stroke in conjunction with the Society for Progressive Supranuclear Palsy (NINDS-SPSP^[6,7]It has shown the drawbacks of high specificity and insufficient sensitivity in clinical application. Redefining and establishing new clinical diagnostic criteria is crucial to standardize clinical research, improve disease identification and guide possible neuroprotective treatments. However, China has not established relevant diagnostic criteria. Therefore, the Parkinson's Disease and Movement Disorder Group of Neurology Branch of Chinese Medical Association put forward and established diagnostic criteria in China based on recent clinical research and literature review at home and abroad, in order to improve the accuracy of clinical diagnosis of PSP and reduce missed diagnosis and misdiagnosis.

Parkinson's disease is also known as "tremor paralysis". At present, research has found that it is mainly caused by the pathological changes of dopaminergic neurons in substantia nigra, the reduction of dopamine synthesis, the reduction of the function of inhibiting acetylcholine, and the imbalance of dopamine and acetylcholine^[1]。 To date, although the etiology and pathogenesis of Parkinson's disease have been studied for many years, the pathogenesis of the disease is not completely clear. Therefore, actively seeking early diagnosis methods and early treatment is one of the key and difficult points in the research of Parkinson's disease^[2,3,4]。

Central nervous system damage complicated by hemodialysis is more common in clinic, also known as dialysis-related encephalopathy, including dialysis imbalance syndrome, dialysis dementia, etc. Due to the improvement of dialysis equipment, dialysis imbalance syndrome is currently less common. A patient with dialysis imbalance syndrome presenting with lentiform fork sign (LFS) diagnosed and treated by us is reported below.

Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis is an anti-NMDAR antibody-mediated autoimmune encephalitis, which mainly manifests as abnormal mental behavior, disturbance of consciousness, seizures, dyskinesia, hypopnea, autonomic dysfunction, etc^[1,2,3]Its diagnosis depends on the detection of anti-NMDAR antibodies in serum and cerebrospinal fluid^[4]More than half of the patients' head MRI showed long T in hippocampus, temporal lobe, frontal lobe, corpus callosum, cerebral/cerebellar cortex, basal ganglia, brainstem and other parts₂FLAIR hyperintensity abnormal lesions^[3,5]。 Among them, patients with multiple sclerosis-like demyelination are relatively rare. One case we treated is reported as follows.

25% ~40% of patients with ischemic cerebrovascular disease have cryptogenic stroke (CS). Some studies have found that patent foramen ovale (PFO) is closely related to CS^[1]It is speculated that its pathogenesis may be related to ambivalent embolism^[2]。 We clinically encountered a young patient with massive cerebral infarction, pulmonary artery embolism and vascular embolism around the extremities caused by PFO riding a straddling embolus, which is reported below.

ictal asystole (IA) is uncommon in epileptic seizures, with an incidence of 0.1% to 0.4% in video EEG monitoring^[1], is considered a potential risk factor for unexplained sudden death from epilepsy (SUDEP). A patient with temporal lobe epilepsy admitted to us found IA on video EEG monitoring, which is now reported below.

Bethlem myopathy is a rare autosomal dominant disease, and a few are autosomal recessive^[1], is a subtype of congenital muscular dystrophy, developed by Bethlem and Wijngaarden^[2]It was first reported in 1976 that the main clinical manifestations were slowly progressing muscle weakness and contractures of the fingers, wrist, elbow and ankle joints. Bethlem myopathy is mainly associated with mutations in COL6A1, COL6A2 and COL6A3 genes^[3]。 The clinical characteristics of a Bethlem myopathy family collected by us and the sequencing results of the COL6A2 gene in this family are reported below.

Acute dialysis encephalopathy often shows mental and neurological symptoms during or after dialysis, including numbness and/or weakness of limbs, language impairment, epileptic seizures, and disturbance of consciousness. There is a lack of MRI imaging data of the head of this disease, and some data show that there is no obvious abnormality in MRI of the head of the patient. This patient is a typical dialysis imbalance, and there are cerebral edema manifestations on cranial MRI, which suggest mental abnormalities and epileptic seizures during or after dialysis. Pay attention to timely cranial MRI examination to confirm the diagnosis.

Parkinson's disease (Parkinson's disease) is a common neurodegenerative disease in middle-aged and elderly people. Its pathological changes are mainly manifested by selective progressive degeneration and death of dopaminergic neurons in the substantia nigra of the middle brain, and the formation of Lewy bodies in residual neurons, which in turn leads to a significant reduction of dopamine content in the striatum. The main clinical manifestations of Parkinson's disease are bradykinesia, quiescent tremor, myotonia and postural gait disorders^[1]。 Among them, gait disorder is a common manifestation of motor function deficit in Parkinson's disease, and it is an important cause of fall and disability in patients with Parkinson's disease. In the early stage of the disease, the performance of gait disorder lacks obvious specificity, and it often attracts the attention of clinicians when patients have severe gait disorder or even frequent falls. Therefore, early detection and treatment of gait disorder in Parkinson's disease is of great significance to improve the quality of life and prognosis of patients with Parkinson's disease. In this article, we systematically review the clinical characteristics, diagnostic methods, differential diagnosis, treatment status and research progress of gait disorder in Parkinson's disease.

Parkinson's disease is a neurodegenerative disease with resting tremor, increased muscle tone and bradykinesia as its main clinical manifestations. It is also accompanied by various non-motor symptoms, such as sleep disorder, hyposmell, cognitive dysfunction, autonomic dysfunction, etc. Autonomic dysfunction is an important component of non-motor symptoms. In recent years, studies have found that autonomic dysfunction can appear in the prekinetic stage of Parkinson's disease, and it is a common clinical symptom of Parkinson's disease. The recognition of autonomic symptoms is not only helpful for the early diagnosis of Parkinson's disease, but also for the differential diagnosis of Parkinson's disease and Parkinson's superposition syndrome multiple system atrophy (MSA). We reviewed the clinical manifestations, possible mechanisms, treatment and examination methods of autonomic dysfunction in Parkinson's disease.

In patients with Parkinson's disease, more and more biological system rhythm disorders such as sleep disorders, thermoregulation disorders, depression, motor symptom fluctuations, etc. seriously disturb their daily life. In the past, biological rhythm abnormalities were generally thought to be caused by neurodegenerative diseases, but recent studies have shown that biological rhythm abnormalities may be one of the causes of the occurrence and development of neurodegenerative diseases, and these rhythm disorders can be intervened, which may become a potential treatment in the future. We reviewed the clinical manifestations, gene regulation, production mechanisms and the relationship between biological rhythm disorders in patients with Parkinson's disease, so as to improve clinicians' understanding of biological rhythm disorders in Parkinson's disease and further explore the pathogenesis and future treatment strategies of Parkinson's disease.

Parkinson's disease is the second largest neurodegenerative disease in humans after Alzheimer's disease (AD). Its pathological features are the loss of dopaminergic neurons in the dense part of the substantia nigra of the midbrain and the appearance of eosinophilic inclusion bodies (Lewy bodies). Although the pathophysiological changes of Parkinson's disease have been deeply studied, its etiology and pathogenesis are still unknown. Environmental factors and/or genetic heredity are the most important causes of Parkinson's disease. Degeneration of dopaminergic neurons in substantia nigra in patients with Parkinson's disease is associated with a series of events such as mitochondrial dysfunction, oxidative stress, protein overexpression and aggregation, neuroinflammation and apoptosis^[1]。 Recent studies have shown that insulin resistance (IR) is closely related to the occurrence and development of Parkinson's disease^[2]。 We mainly reviewed the role of IR in the occurrence and development of Parkinson's disease and its correlation with cognitive dysfunction in Parkinson's disease.

Senile plaques and neurofibrillary tangles (NFTs) are two major neuropathological features of Alzheimer's disease (AD)^[1]。 Senile plaques are mainly composed of β-amyloid (A β) deposits, while NFTs are mainly composed of superphosphorylated tau protein. Postmortem brain histopathological examination is the "gold standard" for diagnosis of AD. The amyloprotein cascade hypothesis was previously widely recognized^[2]That is, it is believed that the abnormal production and deposition of A β is the cause of AD. However, the drugs previously developed by several giants aimed at removing amyloid and improving the symptoms of AD have failed because of insignificant efficacy^[3,4]And some multivariate analyses showed that amyloid deposition was not significantly correlated with cognitive impairment, while phosphorylated tau protein, NFTs, synapse and neuronal loss were closely correlated with memory impairment^[5]Therefore, tau protein pathology is gradually becoming a new darling in the field of neurodegenerative disease research.

The 19th International Conference on Parkinson's Disease and Movement Disorders was held in San Diego, USA from June 14 to 18, 2015. More than 2,000 experts, scholars, doctors and researchers from all over the world attended the conference, and more than 30 neurosurgeons and researchers in China attended the conference. In this conference, many progress made in this field in the past year were exchanged and introduced, which gave participants more gains and experiences. Let's give a brief introduction to this.