Objective:To report the clinical manifestation and genetic characteristics of a case of de novo Huntington′s disease due to paternal intermediate alleles. Methods:Clinical data and imaging features of a middle-aged female, who complained of unstable walking without positive family history and was admitted to Xuanwu Hospital, Capital Medical University on September 20, 2022, were retrospectively analyzed. The serum samples of the patient and her parents were used to screen HTT gene dynamic mutation in accordance with the principle of informed consent and voluntary. And the relevant literatures were reviewed. Results:This is a 38-year-old female with progressive course, who presented as ataxia, involuntary movement at the end of extremities, dystonia, and cognitive impairment. Imaging results showed atrophy of bilateral caudate nuclei, as well as decreased glucose metabolism of bilateral caudate nuclei, putamen and partial cortex. Genetic testing showed the abnormal expansion of polymorphic trinucleotide (CAG) repeats in HTT gene and confirmed the diagnosis of Huntington′s disease. The CAG repeat length of the patient was 17/47 (pathopoiesis), of the father was 17/35 (intermediate alleles), and of the mother was 17/17 (normal). Conclusions:Paternal intermediate alleles may cause the first case of Huntington′s disease in a family. Importantly, HTT gene screening should be performed for the patient and parents when the diagnosis of Huntington′s disease is clinically possible despite negative family history, to prevent the misdiagnosis.

Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive genetic disease caused by mutation of CYP27A1 gene. This article reported three cases with clinical phenotypes of CTX and CYP27A1 gene mutation and analyzed the pedigree with a literature review. All the three CTX cases had c.379C>T (p.Arg127Trp) missense mutation on exon 2 of CYP27A1 gene. They all had compound heterozygous mutation and two cases had new type of exon and intron compound mutation. This article enriched the types of CYP27A1 gene mutations in CTX patients. The primers of CYP27A1 gene should also cover more gene sequences including intron regions.

Objective:To explore the clinical and genetic features in a case of fatal familial insomnia (FFI).Methods:A case of 39 years old woman diagnosed as progressive supranuclear palsy based on the preliminary manifestation of imbalance and frequent falls was reported. The clinical features, imaging characteristics, electroencephalogram and polysomnography of the patient were analyzed, and the blood samples from the patient were collected for the sequencing of prion protein (PRNP) gene.Results:This patient is a middle-aged woman, whose clinical manifestations were posture instability and retropulsion, rapid progressive dementia and dysarthria, sleep-related dyspnea and laryngeal stridor, with autonomic symptoms of hypertension, sweating, tachycardia and irregular breathing. The results of PRNP gene sequencing revealed that the mutation of gene D178N/129M was detected.Conclusions:Laryngeal stridor plays an important role in the diagnosis of FFI. Posture instability and retropulsion are relatively rare in the FFI clinical symptom spectrum. Here, a case of FFI presenting with posture instability and retropulsion during the early stage with Met/Met at the polymorphic codon 129 is reported in China.

Objective:To report a case with frontotemporal dementia (FTD) characterized by involuntary laughter.Methods:The clinical manifestations and imaging characteristics of a patient diagnosed as FTD was analyzed. Then the results of cerebrospinal fluid, positron emission tomography-computed tomography (PET-CT) and single-photon emission computed tomography examinations were collected. Blood samples were tested for related genes of FTD.Results:The patient is a 66 years old woman with insidious onset and progressing symptoms and she was mainly manifested as laughing out loud involuntarily when looking at others, childishness, stubbornness, loss of interest, irritability and other personal changes. Mild motor and language disorders were also manifested as moving slowly and speaking unclearly. The magnetic resonance imaging showed the atrophy of bilateral frontal, temporal lobe and bilateral hippocampal while the image of PET-CT showed the metabolism was reduced in different degrees. Eventually, behavioural variant of FTD was diagnosed. The result of ANXA11 gene sequencing revealed the mutation of c.107C>G(p.P36R).Conclusions:This is the first case in which a heterozygous mutation of ANXA11 gene, which is related to amyotrophic lateral sclerosis (ALS), is found in simple FTD patient, suggesting that ANXA11 gene may play an important role in the pathogenesis of FTD. This further supports the theory that ALS and FTD are spectrum disorders.

To introduce professor Gao Yuchun's clinical experience and treating characteristics of facial paralysis treated with acupuncture and moxibustion. Professor Gao pays attention to yangming when he selects acupoints for clinical syndrome, and directs acupoints selection based on syndrome differentiation in different levels of jingjin, meridians and zangfu; he praises opposing needling technique and reinforcing the deficiency and reducing the excess highly; the acupuncture manipulation is gentle,shallow and slow for reducing the healthy side and reinforcing the affected side, and through losing its excess to complement its deficiency; besides, he stresses needle retaining time and distinguishes reinforcing and reducing. Facial paralysis is treated with key factors such as acupoints selecting based on yangming, acupuncture manipulation, needle retaining time, etc. And the spleen and stomach is fine and good at transportation and transformation; the meridians is harmonious; the qi and blood is smooth. The clinical efficacy is enhanced finally.
Acupuncture Points ; Acupuncture Therapy ; history ; methods ; Aged, 80 and over ; China ; Facial Paralysis ; history ; therapy ; History, 20th Century ; History, 21st Century ; Humans

As one of the important founders of GAO's acupuncture academic school in YanZhao area, Professor GAO Yuchun 's experience of acupuncture for headache is summarized in this paper. In the opinion of Professor GAO, the treatment of headache should focus on eliminating evil and relieving pain, and the syndrome differentiation should be based on meridian differentiation, especially on three yang meridians of foot as well as liver meridian and kidney meridian. In the acupoint prescription, attention should be placed on strengthening the spleen and stomach. The midnight-midday ebb flow acupuncture is advocated. The combination between acupuncture order and movement of qi is emphasized. In the manipulation, the role of pressing hand, the stimulation during reinforcing and reducing methods, and needle-retention time are important. The breathing reinforcing and reducing method of acupuncture are also advocated.
Acupuncture Points ; Acupuncture Therapy ; methods ; Female ; Headache ; therapy ; Humans ; Meridians ; Middle Aged

Objective To observe the features of hypocalcemic myopathy secondary to hypoparathyroidism (HP). Methods The symp-toms and signs, laboratory findings and treatments of 13 patients with hypocalcemic myopathy secondary to HP were analyzed retrospective-ly. Results 13 cases of HP were classified into idiopathic HP (8 cases), secondary HP (3 cases) and pseudo-HP (2 cases). The symptoms of hypocalcemic myopathy secondary to HP included tetany, episodic carpopedal spasm, muscle cramps and myalgias in the forearms and calves. It presented blepharospasm, trunk spasm and laryngospasm. Some patients demonstrated positive Trousseau's and Chvostek's sign. Serum level of creatine kinase (CK) and lactate dehydrogenase (LDH) increased. The symptoms of myopathy released and the levels of CK and LDH decreased to normal level after enough calcium carbonate and calcitriol administration. Conclusion All types of HP (idiopathic, secondary and pseudo HP) can cause hypocalcemia and myopathy. Hypocalcemic myopathy secondary to HP would well recover by enough calcium carbonate and calcitriol treatment.

Objective To study the clinical features and pathogenesis of non-traumatic rhabdomyolysis (RM). Methods The causes andclinical features of 11 patients with non-traumatic RM were analyzed retrospectively. Results The causes of non-traumatic RM includeddrugs (3 cases), carbon monoxide poisoning (2 cases), intensive exercise training (2 cases), strenuous farming work (1 cases) and others (3cases). The clinical presentations included muscular weakness, myalgia, muscle swelling, pigmented urine and acute renal failure. The activityof serum creatine kinase increased, electrolyte derangements were common complications. Conclusion Prescribed drugs are the mostcommon cause of non-traumatic RM. The diagnosis of non-traumatic RM is chiefly based on clinical presentations and high levels of serumcreatine kinase. Acute renal failure is the most severe complication and cause of death.

Objective To study the characteristics of hypothyroid myopathy in adults. Methods The clinical, biochemical, electromyographic, and pathologic characteristics of 19 patients with hypothyroid myopathy were analysed retrospectively. Results Proximal muscle weakness and elevation of muscle enzymes were the most common features. Other common clinical manifestations were myalgia, cramps, pseudomyotonia or stiffness after exercise. Muscular weakness with pseudohypertrophy was presented in some patients. Myoedema of temporal muscle was elicited by chewing continually. Hypothyroidism may be related to the pathogenesis of myasthenia gravis. Patients treated with levothyroxine achieved satisfactory outcomes. Hypothyroid myopathy is different from polymyositis in many aspects. Conclusion All patients presenting muscular weakness or elevation of muscle enzymes should be studied with their function of thyroid in order to avoid misdiagnosis.

Objective To study the changes of neuronal nitric oxide synthase in skeletal muscles of Duchenne/Becker muscular dystrophies as to investigaing the pathogenesis of the disease. Methods NADPH diaphorase enzyme histochemistry and nNOS immunohistochemistry were used to analyze the muscle specimens from 36 patients with various muscular dystrophies and 10 normal controls. Results A positive staining was found in sarcolemma of both slow and fast-twitch muscle fibers, in 10 normal controls and 18 patients with non-muscular dystrophy as well as 12 LGMD and 2 FSHD; but a negative staining was found in 10 DMD, and a negative or faint staining in 9 BMD. The loss of nNOS in sarcolemma was associated with the loss of dystrophin, and exon 45～47 in dystrophin gene might be an important region for targeting nNOS to the sarcolemma. The deficiency of nNOS was associated with the severity of DMD/BMD, but no direct evidence for absence of nNOS in sarcolemma leading to the onset of muscle necrosis in DMD/BMD was detected.Conclusions nNOS is expressed at a high level in sarcolemma of normal muscle, and also expressed normally in muscles of those non-muscular dystrophy, LGMD and FSHD patients; but there appear absence or reduction expression in the sarcolemma of DMD and BMD. nNOS is involved in regulating of physiological functions of skeletal muscles and may be an important role in pathogenesis of DMD/BMD.