Reflex Patterns Research Articles

A Unique Retinoscopic Reflex Pattern in the Initial Stages of Keratoconus and Its Clinical Significance for Early Keratoconus Detection: A Case Report

A Unique Retinoscopic Reflex Pattern in the Initial Stages of Keratoconus and Its Clinical Significance for Early Keratoconus Detection: A Case Report

Contralateral cutaneous reflex modulation during gait in individuals with and without chronic ankle instability

IntroductionChronic ankle instability (CAI), a common seqeula to ankle injury is characterized by a variety of sensorimotor deficits extending beyond the previously injured limb. Cutaneous reflexes have been identified as a potential contributor to these functional limitations with recent studies identifying alterations in reflex patterns following sural nerve stimulation among those with CAI. To date, no studies have measured cutaneous reflexes of the unaffected limb in this population, therefore, the objective of this study was to measure contralateral cutaneous reflexes during gait in individuals with unilateral CAI and healthy controls. MethodsMuscle activity of 6 lower limb muscles was measured in nineteen participants while receiving random, non-noxious sural nerve stimulations during a walking task. ResultsControl reflex patterns were generally well-aligned with previous literature while CAI patterns varied from controls in several muscles throughout the gait cycle. Namely, a lack of lateral gastrocnemius facilitation during late stance and medial gastrocnemius inhibition at midstance. Additionally, a lack of significant BF facilitation throughout contralateral swing was noted. These results indicate reflex alterations extend beyond the affected limb in those with unilateral CAI indicating changes at the spinal level following lateral ankle sprains (LAS). Considering the symptom variability in CAI, the lack of significant reflexes exhibited by the CAI group may be due to increased variability in motor output between subjects or between stimulation trials. ConclusionsThese findings highlight the importance of identifying reflex alterations arising from LAS and subsequently treating these limitations through rehabilitation targeting systemic neural pathways rather than local deficits.

Heart rate variability for neuro-prognostication after CA: Insight from the Parisian registry

BackgroundHypoxic ischemic brain injury (HIBI) induced by cardiac arrest (CA) seems to predominate in cortical areas and to a lesser extent in the brainstem. These regions play key roles in modulating the activity of the autonomic nervous system (ANS), that can be assessed through analyses of heart rate variability (HRV). The objective was to evaluate the prognostic value of various HRV parameters to predict neurological outcome after CA. MethodsRetrospective monocentric study assessing the prognostic value of HRV markers and their association with HIBI severity. Patients admitted for CA who underwent EEG for persistent coma after CA were included. HRV markers were computed from 5 min signal of the ECG lead of the EEG recording. HRV indices were calculated in the time-, frequency-, and non-linear domains. Frequency-domain analyses differentiated very low frequency (VLF 0.003–0.04 Hz), low frequency (LF 0.04–0.15 Hz), high frequency (HF 0.15–0.4 Hz), and LF/HF ratio. HRV indices were compared to other prognostic markers: pupillary light reflex, EEG, N20 on somatosensory evoked potentials (SSEP) and biomarkers (neuron specific enolase-NSE). Neurological outcome at 3 months was defined as unfavorable in case of best CPC 3–4-5. ResultsBetween 2007 and 2021, 199 patients were included. Patients were predominantly male (64%), with a median age of 60 [48.9–71.7] years. 76% were out-of-hospital CA, and 30% had an initial shockable rhythm. Neurological outcome was unfavorable in 73%. Compared to poor outcome, patients with a good outcome had higher VLF (0.21 vs 0.09 ms2/Hz, p < 0.01), LF (0.07 vs 0.04 ms2/Hz, p = 0.003), and higher LF/HF ratio (2.01 vs 1.01, p = 0.008). Several non-linear domain indices were also higher in the good outcome group, such as SD2 (15.1 vs 10.2, p = 0.016) and DFA α1 (1.03 vs 0.78, p = 0.002). These indices also differed depending on the severity of EEG pattern and abolition of pupillary light reflex. These time–frequency and non-linear domains HRV parameters were predictive of poor neurological outcome, with high specificity despite a low sensitivity. ConclusionIn comatose patients after CA, some HRV markers appear to be associated with unfavorable outcome, EEG severity and PLR abolition, although the sensitivity of these HRV markers remains limited.

Early Play Behaviors of Infants at Elevated Likelihood for Autism Spectrum Disorder.

Although research has examined early identification of autism spectrum disorder (ASD), few studies have found behavioral markers during midinfancy associated with later ASD diagnosis. To examine infants' play behaviors and atypical positions at age 6 mo and later outcome classification among infants at elevated likelihood (EL) and typical likelihood (TL) for ASD. Atypical positions refer to movement patterns indicative of motor delays or deviations, including atypical extension and flexion, poor weight shift and rotation, hypertonicity or hypotonicity, and the presence of primitive reflex patterns. Observational cohort longitudinal design using blinded video analysis. Fifty-eight infants (41 EL infants and 17 TL infants) 6 mo of age. Infants later diagnosed with ASD needed more support to engage in play at age 6 mo compared with infants who did not receive an ASD diagnosis (U = 130, z = -2.29, p < .05, r = .31). Atypical positions at 6 mo of age were not associated with a later diagnosis of ASD. Play behaviors may be early indicators of developmental differences for infants later diagnosed with ASD. The results of this pilot study suggest the need to observe the quality of interaction with a caregiver and objects during early play, which may serve as potential early indicators of ASD. Plain-Language Summary: Few studies have found behavioral markers during midinfancy that are associated with a later diagnosis of autism spectrum disorder (ASD). The results of this study showed that infants who were later diagnosed with ASD were found to have differences in play behaviors compared to infants who were not later diagnosed with ASD. Thus, early play behaviors may be an early indicator of developmental differences for infants who are later diagnosed with ASD.

Vertical saccades during horizontal head impulses: a sign of posterior semicircular canal hypofunction.

We describe an uncharacteristic vestibular-ocular reflex (VOR) pattern, studied by video head impulse tests (VHIT) in patients suffering from unilateral isolated posterior semicircular canal (PSC) hypofunction. In these patients, we found an upward sliding of the eyes, followed by an oblique downward catch-up saccade during horizontal head impulse to the healthy side. We present a retrospective study of all VHIT exams presenting isolated PSC hypofunction between May 2020 and November 2022. We found 37 patients, which led to the discovery of such incongruent eye movement in 19 cases; their gain data are shown and compared to the remaining 18 cases in which such an anomaly was absent. A control group of 31 healthy subjects was recruited to define the reference criteria for VHIT gain values. The correlation between the amplitude of the vertical saccade and the relative functional imbalance of the vertical semicircular canals was studied. We have observed that in approximately half of the subjects with isolated CSP deficiency, there is a VOR anomaly. A possible pathophysiological explanation of the unbalanced effect of vertical semicircular canal stimulation of a labyrinth during horizontal head thrust toward the opposite side is proposed. The planar incongruity of the response of the VOR described here appears more evident at the onset of the CSP deficit. Current VHIT systems do not detect this incongruent eye reflex. They can lead to an error in gain evaluation (pseudo-deficit) of the lateral semicircular canal of the healthy side and problems in performing the test (trace rejected). In the future, software for VHIT should take into account the possibility of non-coplanar ocular responses to cephalic stimuli.

Does the Integration of Primary Reflex Schemas According to Masgutovas Neurosensorimotor Reflex Integration Improve Functioning and Quality of Life Among Children with Spectrum of Foetal Alcohol Disorders?

Introduction: Foetal Alcohol Disorder Spectrum (FASD) is an incurable, non-genetic disorder that can occur in children whose mothers consumed alcohol during pregnancy. Patients with FASD are characterised by extensive damage to the central nervous system, neurological disorders, delays in physical and mental development, as well as difficulties in emotional regulation and behavioural disturbances. Neurosensory Integration of Reflexes by S. Masgutova is a holistic rehabilitation and therapeutic programme focused on the diagnosis and integration of primary reflex mechanisms. Intrauterine exposure of the foetus to alcohol affects the lack of proper reflex mechanism integration, which constitutes the foundation of harmonious psychomotor, cognitive, emotional and social development.The aim: The aim of this study is to present the role of primary reflex integration disorders according to MNRI in children with the Spectrum of Foetal Alcohol Disorders (FASD), as well as to discuss the impact of integrating primary reflex disorders according to MNRI on the functioning of FASD in children.Methods: The therapy comprised 103 patients (44 girls and 59 boys) aged 1-13 years with FASD, diagnosed according to the criteria of ICD-10 (Q 86.0). The mean age of the patients was 7.13 years (SD 3.26). Each participant took active participation in 2 rehabilitation interventions according to MNRI, the average interval between the stays was 4 months and 1 week (17 weeks).Results: In patients with FASD, the biomechanics of reflex patterns, such as: Babkin's, ATOS, hand support, paralyzing fear, Galant, grasping hands and Babinski, improved after MNRI therapy.Conclusions: Our research allows to indicate that the rehabilitated FASD patients following MNRI therapy could hug their caregivers more easily, thumb-sucking activity decreased, coordination improved, sleep quality significantly improved while psychomotor hyperactivity decreased.

‘Mother-Daughter Syntax’

This article offers a re-reading of James Joyce’s “Eveline” as a transnational story. The concept of the transnational is brought into conversation with motherhood studies, more precisely, with the notion of the ‘mother-daughter dyad’ (Hirsch). The key here is to ex­plore the formal and narratological clues that Joyce uses to convey religiously inflected inheritances of the maternal, inner splits, patterns of repression and matrophobic reflexes. Joyce partly maps Eveline’s psyche by engaging the reader in a set of delicate auditory exercises and, thereby, offers an indirect re-writing of the Orpheus myth. This article shows how the short story has been conceived as a sort of soundbox and demonstrates that Stephen Clingman’s conceptualisation of the transnational through ‘vertical’ versus ‘horizontal’ patterns of identity can be productively applied in the exploration of literary representations of mother-daughter relations as well.

Corticobasal syndrome and Parkinson’s disease at the beginning: asymmetrical patterns of MRI and Blink Reflex for early diagnosis

Differential diagnosis between Parkinson’s disease (PD) and corticobasal syndrome (CBS) could be challenging at the early stage, due to the asymmetric onset of both diseases. Despite the clinical overlap, the anatomical circuits involved in these disorders are different. We evaluated R2 Blink Reflex Recovery Cycle (R2BRRC) and cortical thickness (CTh) in drug-naïve PD and CBS patients for characterizing pathophysiological mechanisms underlying these conditions. Patients with a clinically probable diagnosis of PD and possible CBS were recruited. R2BRRC was evaluated bilaterally at interstimulus intervals (ISIs) of 100–150–200–300–400–500–750 ms. Asymmetry index (AI) of R2BRRC for each ISI was computed. Patients underwent a structural brain MRI and hemisphere CTh and AI of MRI was calculated. Fourteen drug-naïve PD patients and 10 patients with early CBS diagnosis were enrolled. R2BRRC of PD patients showed an increased brainstem excitability for less affected side (LAS) stimulation at ISIs of 100 and 150 ms (p < 0.001) compared to most affected side (MAS), whereas no differences between LAS and MAS were found in CBS. AI of R2BRRC at ISI-100 ms showed significant difference, being higher in PD. CTh analysis showed significant differences between groups in hemisphere cortical volume contralateral to MAS, and, conversely, AI of MRI was significantly higher in CBS. PD patients exhibited an asymmetric pattern of brainstem excitability, compared to CBS. Conversely, CBS patients showed an asymmetric pattern of cortical atrophy. This opposite pattern of neurophysiological and structural abnormalities involving cortical and subcortical brain structures could highlight the different pathophysiological mechanisms underlying these disorders.

Patterns of facial and blink reflex abnormalities in type 2 diabetes mellitus patients with short disease duration: a clue to subclinical cranial neuropathy

Abstract Background Cranial neuropathies occur in 3 to 14% of diabetic patients. Motor conduction study of the facial nerve and blink reflex study are electrophysiologic techniques used to assess the facio-trigeminal pathway in diabetic patients. The patterns of facial and blink reflex abnormalities are inconsistent among studies. This study aimed to assess the subclinical facial nerve and blink reflex abnormalities patterns in short-duration type 2 diabetes mellitus patients. This cross-sectional study included 30 type 2 diabetic patients with disease duration ≤ 5 years. We included only patients with the Toronto clinical neuropathy score ≤ 5. We enrolled 30 age- and sex-matched healthy subjects as a control group. We performed facial nerve motor conduction and blink reflex studies. Patients with prior history of cranial nerve lesions, stroke, or any other disease-causing polyneuropathy or drug-induced neuropathy were excluded from the study. Results Thirty diabetic patients were included, 20 females (66.7%) and ten males (33.3%). Their mean age was 52.63 ± 8.94 years. None of the patients had clinical evidence of neuropathy. There were significant differences between patients and controls in the distal latencies and amplitudes of facial nerve compound muscle action potentials and contralateral R2 late response latencies of the blink reflex. We detected subclinical cranial abnormalities in 6 diabetic patients (20%). One of them (3.3%) had facial nerve conduction abnormalities, four of them (13.4%) had blink reflex abnormalities, and one of them (3.3%) had both facial nerve and blink reflex abnormalities. Conclusion Subclinical cranial neuropathy can occur in short-duration type 2 diabetes mellitus patients. We detected different blink reflex patterns and facial conduction study abnormalities. We recommend blink reflex and facial nerve conduction studies as simple tests for the early evaluation of neurological subclinical affection in patients with short disease duration of T2DM as they may appear in the absence of peripheral neuropathy.

Metathesis in Syrian Arabic: Types and Conditioning Factors

This study explores metathesis in Syrian Arabic (SyA). The data reveal two types of metatheses. Type-I is phonologically conditioned, involving at least one of the four root consonants, ʒ, f, ʕ and ћ with the fricatives (z, s), liquids (l, r) or gutturals (q/ʔ) in specific positions within the root regardless of word derivation. Type-II is morpho-phonologically conditioned, involving Standard Arabic reflexive Pattern VIII, (ʔi)ftaʕal, that resulted historically from generalized metathesis of reflexive-t with C1 of the original Proto-Aramaic reflexive Pattern (ʔi)tfaʕal. It occurs in SyA as a reversed metathesis of Pattern VIII with doubling of C2, tfaʕʕal. This reverse metathesis occurs when the root consonant adjacent to reflexive-t is the fricative (s), pharyngeals (ʕ, ħ) or liquids (l, r). While metathesis results from strictly ranking the Optimality Theoretic LINEARITY constraint lower than LEFT-ANCHOR(t), geminating C2 is explained in terms of prosodic weight of the syllable to maintain stress assignment of the input and verb grammaticality and/or semantic correspondence with the input. Thus, the constraints IDENT(Stress), WEIGHT-BY-POSITION must dominate INTEGRITY and *CODA to allow gemination that contributes moriac weight to the penultimate syllable to receive priority stress over final bimoriac heavy syllables.

Alteration of Ligamento-Muscular Reflex Patterns After Cutaneous and Periarticular Desensitization of the Basal Thumb Joint: An Electromyographic Study

Stimulation of the dorsoradial ligament (DRL) of the first carpometacarpal joint (CMC-1) has shown a ligamento-muscular reflex pathway between the DRL and CMC-1 stabilizing muscles in healthy volunteers. However, it remains unclear how this ligamento-muscular reflex pattern is altered after anesthetizing sensory skin receptors and administering a further periarticular block around the CMC-1 joint, which may influence the dynamic aspects of joint stability. Ligamento-muscular reflexes were obtained from the extensor pollicis longus, abductor pollicis longus, abductor pollicis brevis, and the first dorsal interosseous muscles in 10 healthy participants after establishing superficial anesthesia of the skin around the CMC-1. The DRL was stimulated with a fine wire electrode while EMG activities were recorded during isometric tip, key, and palmar pinch. The measurements were repeated after an additional periarticular CMC-1 block using 5 ml of 1% lidocaine. Average EMG values were analyzed to compare the prestimulus and poststimulus activity. Statistically significant changes in poststimulus EMG activity were observed in all 4 muscles and all 3 tested thumb positions. A markedly reduced activity in all 4 muscles was observed in the palmar position, followed by the tip and key pinch positions. Almost no reactions were observed in the first 20 ms poststimulus for all muscles in all positions. Superficial skin anesthesia and an additional periarticular CMC-1 block anesthesia resulted in a reduced ligamento-muscular reflex pattern in all 4 muscles. Ligamento-muscular reflexes play an important role in dynamic CMC-1 joint stability. The elimination of early reactions, those considered joint-protective reflexes, is a potential risk factor for developing osteoarthritis or injury because it results in an inability to adequately protect and stabilize the joint in sudden movements.

POEMS Syndrome: a clinical challenge / Síndrome de POEMS: um desafio clínico

A 42-year-old male patient admitted to our service with a history of progressive and symmetrical weakness, paresthesia of the lower limbs, weight loss and urinary retention for about 8 months. Physical examination demonstrated poor general condition, lower limb edema, hepatomegaly and digital clubbing. Neurological examination showed a polyneuropathic pattern, with hypoesthesia and absence of deep reflexes of the lower limbs. Initial laboratory investigation demonstrated erythrocytosis and thyroid and adrenal dysfunction in addition to hypergammaglobulinemia. CSF analysis, due to the clinical suspicion of chronic inflammatory demyelinating polyneuropathy, resulted in protein-cytological dissociation. PIDC was hypothesized to be due to light-chain disease, but for this association we supplemented with bone marrow analysis and whole-body CT scan, which showed 4% atypia in plasma cells and osteolytic and osteoblastic lesions in the vertebro-costal region between the 8th and 9th vertebrae. Subsequent biopsy confirmed plasmacytoma. He performed autologous bone marrow transplantation, but evolved with infectious complications and died within 3 months.

Core concepts in physiology: teaching homeostasis through pattern recognition

Homeostasis is a core concept in systems physiology that future clinicians and biomedical professionals will apply in their careers. Despite this, many students struggle to transfer the principles governing homeostasis to concrete examples. Precourse assessments conducted on 72 undergraduate biology students enrolled in an introductory systems physiology course at the University of Belgrade during the February-May semester of 2021 revealed that students had a vague, fragmentary understanding of homeostasis and its related concepts that was often conflated with topics touched on during their previous coursework. We formalized and implemented an approach to teaching homeostasis that focused heavily on consistent reinforcement of physiological reflex patterns throughout the course. To that end, we employed a variety of activities aimed at getting students to view organ system integration holistically. After the semester, postcourse assessment demonstrated that students were better able to provide concrete examples of organ system contributions to homeostasis and were more adept at applying basic principles to novel physiological scenarios. Comparison of final grades with previous semesters revealed that students outperformed their peers who had taken the course previously. In this article, we summarize the findings of pre- and postcourse assessments, describe the general approach we took to teaching homeostasis as well as the specific techniques used in the classroom, and compare student performance with previous semesters.

Integrated system responses for families impacted by violence: a scoping review protocol

IntroductionThe impacts of violence have a significant effect on health and well-being, particularly for women and children. Violence within families is widely recognised as a complex problem constituted by constantly...

Effects of sagittal split osteotomy on brainstem reflexes.

This prospective study was designed to assess whether patients with skeletal deformities show characteristic masseter inhibitory reflex (MIR) and blink reflex (BR) patterns. A secondary aim was to investigate whether these reflexes change following bilateral sagittal split osteotomy (BSSO). Fourteen consecutive patients who underwent single-jaw BSSO and 14classI subjects who constituted the control group were enrolled into the study. MIR and BR, obtained by the stimulation of supraorbital (SBR) and mental nerves (MBR), were electrophysiologically recorded. Sensory impairment in the mental nerve distribution was clinically tested. Three evaluation periods were specified as immediately before (T0), 1month (T1) and 6months (T2) after surgery. MIR early silent period duration was significantly shorter in the patients at T0 (p < 0.001). Sensory deficits developed on 23sides after BSSO, of which, 17recovered after 6months. At T1, MBR was inelicitable bilaterally in 3patients and unilaterally in 2patients. These responses were still unrecordable bilaterally in 1patient, and unilaterally in 4patients at T2. MIR were unrecordable on 18sides at T1 and recovered on 11sides at T2. There were no parallels between the clinical sensory deficits and the abnormal results of the reflexes. Shorter MIR in patients with dentofacial abnormalities may be areflection of an adapted trigeminal reflex mechanism. Although MBR and MIR abnormalities do not develop parallel to the clinical sensory deficits, their course might provide insights into the disturbed trigeminal reflex pathways.

A Case Report of Functional Acupuncture in the Treatment of Senile Left Persistent Facial Paralysis

Introduction: Idiopathic facial palsy, also known as Bell's palsy (BP) or facial neuritis, is an acute onset of peripheral facial neuropathy. The onset of this disease is rapid, and there is a history of cold, mostly on one side of the face. Objective: to introduce and analyze the method and curative effect of functional acupuncture on one case of senile left persistent facial paralysis. Methods: focus on the functional parts of the affected area that need to be improved, select the acupuncture areas with improved trigger function, and select the stimulation dose of electroacupuncture. In other words, functional acupuncture is the main acupuncture method in the treatment process, that is, to take a functional position before acupuncture on the paralyzed side of the cheek, that is, to lift the patient's left corner of the mouth outward to above the functional position with a surgical small retractor (the largest lifting mouth angle is tilted to the left side), to determine the left cheek muscle functional area (needle entry area), and to make corresponding adjustment on the left cheek Acupoints selected in functional areas: Xiaguan, zygomatic Luo, buccal Che, Yingxiang, Renzhong, Taiyang, sizhukong, Chengzhi, yangbai. The needle of 0.35 mm × 40 mm was selected, and 0.3-1 inch flat needling was used with electroacupuncture. The waveform was density wave. Five times a week, 10 times for a course of treatment. Results: after two courses of functional acupuncture treatment, the patient's left eyelid was basically closed, and the air leakage during the left cheek bulging was significantly improved. After eating, the food left in the left cheek disappeared, the left nasolabial groove appeared, the left frontal lines appeared, and the symptoms of the left mouth angle slanting to the right were significantly improved (see the figure below). Conclusion: the essence of functional acupuncture improvement is to re form a strong neuromuscular effect in muscles, destroy the paralysis and weakness of target muscles, and reconstruct the normal neuromuscular coupling mode. The aim of this balance mechanism is to destroy the reflex pattern of abnormal muscle paralysis and muscle weakness and reconstruct an orderly and normal neuromuscular reflex.

Vestibulo-ocular reflex tests may reflect unilateral Ménière disease progression: A cross-sectional study.

Vestibular disorders can manifest several patterns of horizontal vestibulo-ocular reflex (VOR) impairment, which can be detected by caloric test and video head impulse test (vHIT). Several studies have examined the patterns of caloric-vHIT response in Ménière disease (MD). The purpose of this study was to investigate the diversity of caloric-vHIT response and its related factors in unilateral MD patients. We also explore the possibility of assessing the progression of unilateral MD by using the horizontal VOR tests.Ninety-eight patients with unilateral MD were enrolled and underwent a battery of audio-vestibular evaluations, including the pure tone audiogram, caloric test, and horizontal vHIT. Some patients received the electrocochleography and glycerol test. The combined results of caloric test and horizontal vHIT were categorized qualitatively into 4 patterns: Pattern I: normal caloric and vHIT responses; Pattern II: abnormal caloric and normal vHIT responses; Pattern III: normal caloric and abnormal vHIT response; and Pattern IV: abnormal caloric and vHIT responses. The abnormal caloric results were semi-quantitatively subdivided into sub-patterns as mild, moderate, and severe abnormality. The associations between these patterns/sub-patterns and related factors were analyzed.Pattern I was found in 35 cases (35.7%), Pattern II in 57 (58.2%), and Pattern IV in 6 (6.1%). No patient had Pattern III. No significant differences were found between the patterns/sub-pattern distribution and age, electrocochleography, and glycerol test results. Disease duration was not associated with the pattern distribution, while remained a relation with sub-pattern distribution. The pattern/sub-pattern distribution varied significantly across MD stages. The proportion of pattern II or pattern IV increased with the stage of unilateral MD.MD can manifest several patterns of horizontal VOR impairment, of which the impaired caloric response with normal vHIT is the most common pattern. With the progression of unilateral MD, the caloric-vHIT pattern tends to shift, which may reflect the deterioration of endolymphatic hydrops and vestibular hair cells impairments.

A hereditary spastic paraplegia predominant phenotype caused by variants in the NEFL gene

IntroductionThis study reports a large series of patients with a clinical picture dominated by spastic paraplegia in whom variants in the NEFL gene, a known cause for Charcot-Marie-Tooth disease, were identified. MethodsIndex patients referred for a suspicion of hereditary spastic paraplegia (HSP) were clinically assessed and genetic analysis by next-generation sequencing was undertaken. Additional family members were clinically examined and subjected to targeted testing. ResultsWe identified two different heterozygous dominant variants in the NEFL gene in 25 patients from 14 families. Most of them (21/25) had a clinical diagnosis of HSP, often with a concomitant clinical diagnosis of polyneuropathy (16/21). Two patients were identified with a polyneuropathy with a pyramidal reflex pattern, but without spasticity. Two patients had isolated polyneuropathy. Out of the 21 patients with a diagnosis of HSP, two had co-occurring cerebellar signs. The c.262A > C p.(Thr88Pro) variant was detected in 13 families. Genealogical analysis showed shared ancestors or a similar geographical origin in 12, suggesting a founder effect. The other variant, c.296A > C p.(Asp99Ala), was found in only one family, in which limited segregation analysis could be performed. DiscussionVariants in the NEFL gene can cause HSP, with or without co-existing polyneuropathy, and should be included in diagnostic testing strategies for HSP patients.

Alterated ligamento-muscular reflex pattern after stimulation of the anterior talofibular ligament in functional ankle instability.

Ligamento-muscular reflex pattern following stimulation of the anterior talofibular ligament (ATFL) was examined. The peroneus longus (PL), the tibialis anterior (TA), and tibialis posterior (TP) muscles were investigated in sixteen patients with functional ankle instability (FAI) and 16 age- and gender-matched controls. The ATFL was stimulated with a fine wire electrode while electromyographic (EMG) activities were recorded during isometric foot contraction of 20% maximal force in plantarflexion, dorsiflexion, supination and pronation. The complete measurement was repeated after a peroneal block anesthesia. Statistically significant changes in post-stimulus EMG activity were observed in all three muscles and all four tested foot positions. In supination, the PL showed no reactions in both groups before and after anesthesia. The post-stimulus inhibition of the TA seen after 80 and 180ms disappeared in controls after anesthesia. The TP had similar inhibitory responses in both groups. Ligamento-muscular reflex pattern is alterated in FAI. While early reactions are essential in protecting the ankle joint in sudden movements, the later responses indicate a supraspinal control of neuromuscular stability of the ankle joint. Proprioceptive rehabilitation of the PL, TA, and TP is crucial in FAI to compensate for post-traumatic ligamentomuscular reflex deficiencies. II.

1-1THE EFFECT OF SIMVASTATIN FOR CAROTID INTIMA MEDIA THICKNESS IN ACUTE ISCHEMIC STROKE PATIENT WITH HYPERTENSION

Background: Acute ischemic stroke is caused by thrombotic or embolic occlusion of a cerebral artery. Carotid intima-media thickness (IMT) may be measured by ultrasound, where the distance between a double-line reflex pattern representing the luminal-intimal and the medial-adventitial interfaces corresponds well with IMT measured in histological specimens. Patients with hypertension tend to develop a thickening of the intima-media carotid artery. Simvastatin inhibits further atherothrombotic process. Objective: To analyze the effect of simvastatin for CIMT in ischemic stroke patient with hypertension. Method: This study was a Randomized Pretest-Posttest Design and conducted at the Hospital Inpatient Ward Dr Kariadi Semarang from January to December 2018 for all first ischemic stroke patients with hypertension treatment in Dr. Kariadi Hospital Semarang. Subjects were divided into groups of 35 controls, and 38 patients treated groups. The treatment group were given simvastatin 20 mg each daily for 24 weeks in 38 subjects with a history of acute ischemic stroke and hypertension. Examine the CIMT at the 1st week and 24th week. The normality of the data was tested using Shapiro Wilk and the differences analyzed by using Paired t-test. Result: There was a significant difference between CIMT on the administration of simvastatin for ischemic stroke patients with hypertension (p = 0,04). Conclusion: Simvastatin significantly decreases CIMT on ischemic stroke patients with hypertension.