Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a rare and early-onset neurodegenerative disease caused by variants of the SACS gene which maps to chromosome 13q11 and encodes sacsin protein. Sacsin is highly expressed in large motor neurons, in particular cerebellar Purkinje cells. This article has provided a review for the structure and function of sacsin protein and the mechanisms underlying abnormalities of sacsin in ARSACS disease.
Humans ; Spinocerebellar Ataxias/pathology* ; Ataxia/genetics* ; Muscle Spasticity/genetics*

OBJECTIVE: To find out the characteristics of the foot pressure distribution and the path of center of pressure (COP) in the children with cerebral palsy, compared with normal control children. METHOD: Twenty-four children with spastic cerebral palsy(CP) and 38 normal children were participated in this study. The parameters of foot contact, plantar pressure and COP were measured using F-scan system (Teksan Inc.) with pressure ensitive insoles inserted in the shoes. RESULTS: The total contact area, mid foot contact width and also the pressure of hallux and medial side of mid foot were significantly higher in the children with CP than in normal controls. While the pressure of hind foot was significantly lower in the children with CP compared with normal controls. Anteroposterior distance and velocity of COP were significantly lowered in the cerebral palsied children. The paths of COP of both groups were directed inwardly without any significant differences between both groups. CONCLUSION: We can identify the characteristics of the foot pressure distribution and the path of COP in the children with spastic CP using F-scan system. These quantitative data of foot scan may be useful for evaluating the foot pathology during the gait in the children with CP.
Cerebral Palsy* ; Child* ; Foot* ; Gait ; Hallux ; Humans ; Muscle Spasticity* ; Pathology ; Shoes ; Walking*

OBJECTIVE: To find out the characteristics of foot pressure in children with mild spastic diplegic cerebral palsy over 7 years old compared with those of normal children. METHOD: Twenty children with mild spastic diplegic cerebral palsy and fourteen normal children over 7 years old articipated in this study. The foot was divided into 7 portions and then foot contact area, pressure of each foot portion and pathway of center of pressure (COP) were measured and analyzed by F-scan system (Tekscan Inc., USA) RESULTS: In children with cerebral palsy, first metatarsal area MET1) showed the highest relative impulse followed by MET2/3, hindfoot and hallux. Relative impulse of hallux, MET1 and medial midfoot were significantly higher in cerebral palsied than in normal children, while that of hindfoot was significantly lower in cerebral palsied than in normal children. Anteroposterior ratio of COP and gait velocity were significantly lower in cerebral palsied than in normal children. CONCLUSION: The characteristics of foot pressure distribution and the pathway of COP in children with mild spastic diplegic cerebral palsy were identified by quantitative analysis by F-scan system. Foot scan could be used for eval uating the foot pathology in children with cerebral palsy during gait.
Cerebral Palsy* ; Child* ; Foot* ; Gait ; Hallux ; Humans ; Metatarsal Bones ; Muscle Spasticity* ; Pathology

OBJECTIVE: The purpose of this study is to evaluate gait characteristics using kinematic analysis in children with hemiplegic spastic cerebral palsy. METHOD: Fifty-seven non-operated spastic hemiplegic children who were able to walk independently without any walking aid were recruited as subjects. Three-dimensional kinematic gait analysis using a motion analyzer (Vicon 370 M. A. with 6 infrared cameras) were performed in all patients. Changes in joint angle of hip, knee and ankle in sagittal plane were evaluated to classify gait pattern and also the temporospatial values were measured to determine any differences between groups. RESULTS: Gait patterns were able to be classified into 6 groups. Group I had a minimal gait disturbance, a drop foot pattern. Group II showed hip and knee flexed, with normal ankle range. Group III showed hip, knee, and ankle flexed. Group IV showed genu recurvatum with tibia progression, Group V showed genu recurvatum with tibia arrest. Group VI showed stiff crouch gait. However, the temporospatial values between groups were not significantly different. CONCLUSION: This classification system would be useful for converting the vast quantitative information of gait analysis into descriptive and clinically relevant patterns. Therefore, it would be helpful for the clinician to understand underlying pathology and plan appropriate treatment.
Ankle ; Cerebral Palsy* ; Child* ; Classification ; Foot ; Gait* ; Hip ; Humans ; Joints ; Knee ; Muscle Spasticity* ; Pathology ; Tibia ; Walking

OBJECTIVE: To explore the clinical feature and genetic variant of a child with autosomal recessive Charlevoix-Saguenay type spastic ataxia (ARSACS). METHODS: Clinical data of a child who was admitted to the West China Second Hospital of Sichuan University on April 30, 2021 was collected. Whole exome sequencing (WES) was carried out for the child and his parents. Candidate variants were verified by Sanger sequencing and bioinformatic analysis based on the guidelines from the American College of Medical Genetics and Genomics (ACMG). RESULTS: The child, a 3-year-and-3-month-old female, had a complain of "walking instability for over a year". Physical and laboratory examination revealed progressive and aggravated gait instability, increased muscle tone of the right limbs, peripheral neuropathy of the lower limbs, and thickening of retinal nerve fiber layer. The results of WES revealed that she has harbored a maternally derived heterozygous deletion of exons 1 to 10 of the SACS gene, in addition with a de novo heterozygous c.3328dupA variant in exon 10 of the SACS gene. Based on the ACMG guidelines, the exons 1-10 deletion was rated as likely pathogenic (PVS1+PM2_Supporting), and the c.3328dupA was rated as a pathogenic variant (PVS1_Strong+PS2+PM2_Supporting). Neither variant was recorded in the human population databases. CONCLUSION The c.3328dupA variant and the deletion of exons 1-10 of the SACS gene probably underlay the ARSACS in this patient.
Female ; Humans ; Heat-Shock Proteins/genetics* ; Muscle Spasticity/genetics* ; Mutation ; Spinocerebellar Ataxias/pathology* ; Child, Preschool

Abnormalities, Multiple ; pathology ; Adolescent ; Alopecia ; pathology ; Bone Diseases, Developmental ; pathology ; Diarrhea ; pathology ; Female ; Follow-Up Studies ; Humans ; Muscle Spasticity ; pathology ; Syndrome

OBJECTIVEFunctional magnetic resonance imaging (fMRI) was used to detect the cerebral cortical somatotopy during maximum voluntary clenching with and without soft splint in patients with hemimasticatory spasms (HMS) and the central mechanisms of HMS and the rule of the splint therapy.

METHODSFour HMS patients were selected and the spasms sides were right in two cases and left in the other two cases. FMRI images were obtained on Elscint/GE 2.0 Tesla MR system. Block design was used and the movement pattern was the onset of spasms after maximum voluntary clenching with and without soft splint. The fMRI data were analyzed by SPM99 software.

RESULTSWith the onset of spasms after maximum voluntary clenching, the activation of motor cortex in 3 HMS patients was found lateral dominance on the left side, and the other one showed bilateral activation. All the 4 patients were found activation in cingulate area. With the onset of spasms after maximum clenching wearing soft splints, the activation of motor cortex showed no lateral dominance on the left side, and 3 patients were not found activation in cingulate area.

CONCLUSIONSThe changes of the activation in motor cortex and cingulate area during the onset of spasms after clenching with and without soft splint might be the central mechanisms of the rule of splint therapy, through which the soft splint might function in alleviating muscle pain.

Brain ; physiopathology ; Female ; Humans ; Magnetic Resonance Imaging ; methods ; Male ; Masticatory Muscles ; pathology ; physiopathology ; Middle Aged ; Motor Cortex ; physiopathology ; Mouth Protectors ; Muscle Spasticity ; pathology ; physiopathology

OBJECTIVETo observe the clinical efficacy on spastic pelvic floor syndrome (SPFS) treated with electroacupuncture (EA) at Shangliao (BL 31), Ciliao (BL 32), Zhongliao (BL 33) and Xialiao (BL 34).

METHODSThirty-six cases of SPFS were treated with EA at Shangliao (BL 31), Ciliao (BL 32), Zhongliao (BL 33) and Xialiao (BL 34), intermittent wave, 60 times/min in frequency, retained for 20 min. In general, the acupoints on one side were stimulated in each treatment. The bilateral acupoints stimulation was applied in serious cases. The treatment was given once every two days, five treatments made one session and totally three sessions were required. Before and after treatment, the clinical symptoms, anal kinetic indices defecation radiographic changes were observed. The follow-up observation was done in three months after the end of treatment.

RESULTSIn three-months follow-up after treatment, 14 cases were cured, 18 cases improved and 4 cases failed. The total effective rate was 88. 9%. After treatment, the cases of incomplete defecation, difficult defecation, anal pain and anal obstruction were reduced apparently as compared with those before treatment, indicating the statistically significant differences (all P<0.01). After treatment, rectal anal reflex threshold (ARA) was increased, anal maximal contraction pressure (AMCP) was reduced to (16.62±1.54) kPa and anal rest pressure (ARP) was significantly reduced to (7.22±0.36) kPa, indicating the statistical differences as compared with those before treatment (all P<0.01). After treatment, anorectal angle (ARA) in forceful defecation was increased to (116.55±9.42)°, the distance between the anorectal junction and the pubococcygeal line was decreased, and the impression of puborectal muscle was alleviated apparently as compared with that before treatment (P<0.01).

CONCLUSIONEA at Shangliao (BL 31), Ciliao (BL 32), Zhongliao (BL 33) and Xialiao (BL 34) achieves definite efficacy on SPFS and this therapeutic method obviously relieves the symptoms and deserves to be promoted in clinic.

Acupuncture Points ; Adult ; Aged ; Anus Diseases ; physiopathology ; therapy ; Constipation ; physiopathology ; therapy ; Defecation ; Electroacupuncture ; Female ; Humans ; Male ; Middle Aged ; Muscle Spasticity ; physiopathology ; therapy ; Pelvic Floor ; pathology

The upper chest wall does not grow properly in children with spinal muscular atrophy (SMA) with paradoxical breathing. This suggests that long-term inability to take a deep breath in developing children may result in underdevelopment of the upper chest wall. In addition, a rapid and paradoxical breathing pattern is frequently observed in children with severe cerebral palsy (CP), which often corresponds to the underdevelopment of the upper chest wall. The present study is designed to evaluate the ratio of the upper to lower chest wall in children with severe spastic quadriplegic CP, compared with normal children. We compared normal children with children that had spastic quadriplegic CP who did not have kyphosis or scoliosis. Test subjects were matched in terms of age, height, and weight. The diameters of upper chest (D(apex)) and of lower chest (D(base)) were measured on the anteroposterior (AP) view of a chest X-ray and the D(apex) to D(base) ratio was calculated. In selected cases the forced vital capacity (FVC) was measured using a Wright Respirometer. The D(apex) to D(base) ratio was significantly lower in the CP group than in the control group (p < 0.001). The ratio increased linearly with age (p < 0.001) in both CP (R = 0.372) and control groups (R = 0.477). The FVC/preFVC showed significant correlation with the D(apex) to D(base) ratio (R = 0.542, p < 0.01). The results of this study suggest a deviation of optimal chest wall structure in children with spastic quadriplegic CP.
X-Rays ; Vital Capacity ; Time Factors ; Thoracic Wall ; Thoracic Cavity ; Respiratory Tract Diseases/*pathology/physiopathology ; *Respiration ; Quadriplegia/*pathology ; Muscle Spasticity/*pathology ; Male ; Lung/pathology ; Humans ; Forced Expiratory Volume ; Female ; Child, Preschool ; Child ; Cerebral Palsy/*pathology ; Case-Control Studies

Incontinentia pigmenti (IP) is a rare hereditary neurocutaneous syndrome characterized by typical linear hyperpigmentationed skin lesions, often associated with central nervous system (CNS) involvement, dysplasia in dental and skeletal system, and ocular abnormalities. Thirty to fifty percent of the patients suffer CNS complications such as mental retardation, seizures, spastic paralysis, microcephaly, and cerebellar ataxia. We experienced a case of incontinentia pigmenti in three-month-old female patient who had characteristic linear hyperpigmented skin lesion on both her thighs and partial seizure with secondary generalization. She had family history of typical skin lesions on her maternal relatives. She showed abnormal findings on EEG as well as multiple necrotic lesions on brain MRI. Confirm diagnosis of incontinentia pigmenti was made by skin biopsy.
Biopsy ; Brain ; Central Nervous System ; Cerebellar Ataxia ; Diagnosis ; Electroencephalography ; Female ; Generalization (Psychology) ; Humans ; Incontinentia Pigmenti ; Intellectual Disability ; Magnetic Resonance Imaging ; Microcephaly ; Muscle Spasticity ; Muscular Dystrophy, Duchenne* ; Neurocutaneous Syndromes ; Paralysis ; Pathology* ; Seizures ; Skin ; Thigh