Neuropathy in ARSACS is demyelinating but without typical nerve enlargement in nerve ultrasound.

BACKGROUND: To specify peripheral nerve affection in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) by correlating high-resolution nerve ultrasound and nerve conduction studies. METHODS: We assessed a cohort of 11 ARSACS patients with standardized nerve conduction studies and high-resolution ultrasound of peripheral nerves and compared nerve ultrasound findings to a healthy control group matched for age, sex, size and weight. RESULTS: Mean age of patients was 39.0 (± 14.1) years and disease duration at assessment 30.6 (± 12.5) years. All patients presented with a spasticity, ataxia and peripheral neuropathy. Neuropathy appeared to be primarily demyelinating in 9/11 cases and was not classifiable in 2/11 cases due to not evocable potentials. Nerve ultrasound revealed a normal ultrasound pattern sum score (UPSS) in each ARSACS patient and no significant nerve enlargement compared to the control group. CONCLUSIONS: Peripheral neuropathy in ARSACS showed primarily demyelinating rather than axonal characteristics and presented without nerve enlargement. As demyelinating neuropathies do commonly present enlarged nerves we recommend further genetic testing of the SACS gene in patients who present with this combination of demyelinating neuropathy without nerve enlargement. ARSACS cases that initially presented only with neuropathy without spasticity or ataxia and therefore were misdiagnosed as Charcot-Marie-Tooth disease are supporting this suggestion.

Widening the clinical, radiological and genetic spectrum of autosomal recessive ataxia of Charlevoix-Saguenay in Indian patients.

BACKGROUND: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), classically presenting as a triad of early-onset cerebellar ataxia, lower extremity spasticity and peripheral neuropathy, is caused by mutations in SACS gene which encodes the protein sacsin. OBJECTIVE: To provide new insight into the occurrence of SACS mutations in South India. METHODS: Patients with three cardinal features of ARSACS-peripheral neuropathy, cerebellar ataxia, and pyramidal tract signs were included. Nine patients were clinically identified and genetically evaluated. Mutation screening of SACS by targeted sequencing of 40 recessive ataxia genes panel by next-generation sequencing was conducted. Additional investigations included magnetic resonance imaging (MRI), fundoscopy, optical coherence tomography (OCT) and nerve conduction studies (NCS). Functional disability was assessed by the Spinocerebellar Degeneration Functional Score. RESULTS: Two hundred and fifteen cerebellar ataxia patients were screened, and 9 patients with cerebellar ataxia with spasticity, peripheral neuropathy and MRI brain characteristics, consistent with a clinical diagnosis of ARSACS were identified, of which 7 patients were identified to have mutation in the SACS gene and are detailed hereafter. Age of presentation ranged from 20 to 55 years (29.8 ± 11.9) with a mean disease duration of 12.7 years (SD-7.65, range 5-22 years). All except one had onset of symptoms in the form of an ataxic gait noticed before 20 years of age. Additional features were subnormal intelligence (4/7), slow and hypometric saccades (1/7), seizures (1/7), kyphoscoliosis (1/7) and dysmorphic facies (1/7). SDFS was 3 in 5/7 patients signifying moderate disability with independent ambulation. MRI showed cerebellar atrophy with predominant atrophy of the superior vermis (7/7), horizontal linear T2 hypointensities in the pons(7/7), hyperintensities where lateral pons merges with the middle cerebellar peduncle (MCP) (7/7) well seen in fluid-attenuated inversion recovery (FLAIR) images, thickening of MCP (3/7), symmetric lateral thalamic hyperintensities (6/7), posterior fossa arachnoid cyst (4/7),thinning of posterior mid-body of corpus callosum (7/7), marginal mineralisation of the basal ganglia (7/7), bilateral parietal atrophy (7/7) and thinning of corticospinal tract on diffusion tensor imaging (DTI) (7/7). We identified pathogenic homozygous frameshift mutations in the SACS gene in six patients (including two siblings), while one patient had a heterozygous pathogenic deletion. CONCLUSIONS: This is the largest series of genetically confirmed ARSACS patients from India highlighting the clinical, ophthalmological, imaging and genetic features of this cohort.

Ultrasonography-guided botulinum toxin injection for lumbrical muscle spasticity in a hemiplegic patient.

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Ultrasound findings in painful spastic hip. Muscle thickness in children with cerebral palsy.

BACKGROUND: In cerebral palsy (CP), spasticity is the dominant symptom and hip pain is one of the most common secondary conditions. Aetiology is not clear. Musculoskeletal ultrasound (MSUS) is a low-cost, non-invasive imaging technique that allows assessment of structural status, dynamic imaging, and quick contralateral comparison. OBJECTIVE: A retrospective case-matched-control study. To investigate associated factors with painful spastic hip and to compare ultrasound findings (focusing on muscle thickness) in children with CP vs. typically developing (TD) peers. SETTING: Paediatric Rehabilitation Hospital in Mexico City, from August to November 2018. PARTICIPANTS: 21 children (13 male, 7 + 4.26 years) with CP, in Gross Motor Function Classification System (GMFCS) levels IV to V, with spastic hip diagnosis (cases) and 21 children age- and sex-matched (7 + 4.28 years) TD peers (controls). CHARACTERISTICALLY DATA: Sociodemographic data, CP topography, degree of spasticity, mobility arch, contractures, Visual Analog Scale (VAS), GMFCS, measurements of the volumes of eight major muscles of the hip joint and MSUS findings of both hips. RESULTS: All children with CP group reported chronic hip pain. Associated factors for hip pain (high VAS hip pain score) were degree of hip displacement (percentage of migration), Ashworth Level, GMFCS level V. No synovitis, bursitis or tendinopathy was found. Significant differences (p < 0.05) were found in muscle volumes in all hip muscles (right and left) except in the right and left adductor longus. CONCLUSION: Though possibly the most important issue with diminished muscle growth in CP children is the influence on their long-term function, it is likely that training routines that build muscle size may also increase muscle strength and improve function in this population. To improve the choice of treatments in this group and maintain muscle mass, longitudinal investigations of the natural history of muscular deficits in CP as well as the impact of intervention are needed.

Utilization of shear wave elastography to quantify and predict response to upper extremity botulinum toxin injections in patients with cerebral palsy: A pilot study.

OBJECTIVE: Shear wave elastography (SWE) was used to quantify change in upper extremity muscle stiffness in patients with unilateral spastic cerebral palsy (USCP) following botulinum toxin A (BTX-A) therapy. We hypothesized that SWE measures would decrease following ultrasound-guided BTX-A injection, and correlate with functional improvement. METHODS: SWE measures of BTX-A treated muscles were recorded immediately pre-injection, and at 1-, 3- and 6-months post-injection. At the same timepoints, functional assessment was performed using the Modified Ashworth Scale (MAS), and passive and active range of motion (PROM and AROM) measures. Correlation of SWE with MAS, PROM and AROM, as well as the relationship between change in SWE and change in MAS, PROM and AROM was determined using Spearman's rank correlation coefficient and generalized estimating equation modeling. RESULTS: 16 muscles were injected and longitudinally assessed. SWE and MAS scores decreased following BTX-A injection (p = 0.030 and 0.004, respectively), reflecting decreased quantitative and qualitative muscle stiffness. Decreased SWE reached statistical significance at 1- and 3-months, and 1-, 3- and 6-months for MAS. When comparing relative change in SWE to relative change in AROM, larger change in SWE strongly correlated with positive change in AROM (p-value range:<0.001-0.057). BTX-A responders also demonstrated lower baseline SWE (1.4 m/s) vs. non-responders (1.9 m/s), p = 0.035. CONCLUSION: Ultrasound-guided BTX-A injections in patients with USCP resulted in decreased quantitative and qualitative muscle stiffness. Strong correlation between change in SWE and AROM, as well as the significant difference in baseline SWE for BTX-A responders and non-responders, suggests SWE may provide a useful tool to predict and monitor BTX-A response.

Resting-state functional connectivity in multiple sclerosis patients receiving nabiximols for spasticity.

BACKGROUND: Nabiximols (Sativex®) is a cannabinoid approved for multiple sclerosis (MS)-related spasticity. Its mechanism of action is partially understood, and efficacy is variable. OBJECTIVE: To conduct an exploratory analysis of brain networks connectivity changes on resting state (RS) functional MRI (fMRI) of MS patients treated with nabiximols. METHODS: We identified a group of MS patients treated with Sativex® at Verona University Hospital, who underwent RS brain fMRI in the 4 weeks before (T0) and 4-8 weeks after (T1) treatment start. Sativex® response was defined as ≥ 20% spasticity Numerical Rating Scale score reduction at T1 vs. T0. Connectivity changes on fMRI were compared between T0 and T1 in the whole group and according to response status. ROI-to-ROI and seed-to-voxel connectivity were evaluated. RESULTS: Twelve MS patients (7 males) were eligible for the study. Seven patients (58.3%) resulted Sativex® responders at T1. On fMRI analysis, Sativex® exposure was associated with global brain connectivity increase (particularly in responders), decreased connectivity of motor areas, and bidirectional connectivity changes of the left cerebellum with a number of cortical areas. CONCLUSIONS: Nabiximols administration is associated with brain connectivity increase of MS patients with spasticity. Modulation of sensorimotor cortical areas and cerebellum connectivity could play a role in nabiximols effect.

Association of activities of daily living and cognitive function with thickness of the upper extremity muscles in children and adults with cerebral palsy.

PURPOSE: We examined the association of activities of daily living (ADL) and cognitive function with the upper extremity muscle thickness and upper extremity range of motion (ROM) and spasticity in children and adults with cerebral palsy (CP). METHODS: The subjects were 20 children and adults with CP. The ADL performed using the upper extremities and cognitive function were assessed using the self-care domain of the Pediatric Evaluation of Disability Inventory (PEDI) and the full-scale intelligence quotient (FSIQ) of the Wechsler Intelligence Scale for Children, fourth edition (WISC-IV), respectively. The WISC-IV was assessed in only seven of 20 subjects able to undergo evaluation. The thickness of the upper extremity muscles was measured using an ultrasound imaging device. Moreover, ROM and spasticity of the upper extremities were assessed using the Modified Ashworth Scale (MAS). Manual manipulation ability was also assessed using the Manual Ability Classification System (MACS). RESULTS: Stepwise regression analysis revealed that the extensor digitorum muscle thickness and MACS level were significant and independent factors of self-care in the PEDI. Partial correlation analysis with MACS level and age as control variables showed that the FSIQ of the WISC-IV was significantly associated with the thickness of the anterior fibers of the deltoid and flexor digitorum superficialis muscles. CONCLUSION: Reduced ADL performed using the upper extremities is associated with decreased extensor digitorum muscle thickness rather than ROM and spasticity of the upper extremities in children and adults with CP.

Recommendations for Ultrasound Guidance for Diagnostic Nerve Blocks for Spasticity. What Are the Benefits?

The diagnostic nerve block (DNB) for spasticity is the percutaneous application of an anesthetic to an individual peripheral nerve trunk (mixed motor sensory nerve), nerve branch to a muscle or an intramuscular branch. The DNB causes a temporary paralysis to assess the contribution of muscle(s) on the spastic pattern and may unmask a fully or partially increased joint range of motion. The anesthetic literature supports the use of ultrasound (US) guidance to improve nerve blocks for sensory targets. This communication summarizes the potential advantages that support the use of US to improve DNB technique. Nerves are much smaller than muscle targets and have various known innervation patterns. US allows for rapid localization of the target before injection, particularly in complex anatomy patterns. The nerve trunks are typically found adjacent to or encapsulating blood vessels, which can be quickly identified with or without color Doppler, allowing the clinician to scan from the vessels to the target and avoid intravascular injection. Lower stimulation levels can be used as the targeted muscle(s) can be seen stimulating rather than only on the surface. A shorter needle insertion time and lower stimulation levels should cause less discomfort to the patient. Smaller volumes of anesthetic may be used as the fluid is seen reaching its target and cessation of stimulation is observed. Further study is needed to identify evidence supporting US utilization with electrical stimulation in DNBs for spasticity management, as US use during nerve blocks for perineurial anesthesia has demonstrated improved patient safety and procedural efficiency.

The Sonoelastography and Functional Outcome of Upper Extremity after Kinesiotaping on the Spastic Forearm in Patients with Subacute Stroke.

Objectives: This study is aimed at exploring the feasibility of sonoelastography on muscle stiffness of spastic forearm and evaluating the improvement of functional performance in patients with poststroke spasticity (PSS) after receiving kinesiotaping (KT) and rehabilitation. Methods: According to the spastic levels (using modified Ashworth scale (MAS)) of the affected upper extremity, 59 patients with stroke were allocated into two groups, group A (MAS 0-1): 31 patients (14 men and 17 women; mean age: 60 years) and group B (MAS 1+-2): 28 patients (22 men and 6 women; mean age: 51 years). The Brunnstrom motor recovery stage at the wrist/distal parts in groups A and B was stage 3/3.5 and stage 2.75/3. We evaluated the Brunnstrom stage, spastic levels by MAS and modified Tardieu scale (MTS), and Fugl-Meyer Assessment for upper extremity (FMA-UE). We also evaluated the muscle spasticity of flexor carpi radialis (FCR), flexor carpi ulnaris (FCU), and flexor digitorum superficialis (FDS) muscles using sonoelastography with shear wave velocity (SWV). We applied KT for 20 patients in group B, comparing the changes in sonoelastography and functional outcomes between KT and without KT interventions. Results: Both the MAS and MTS scales were moderately correlated with the SWV in forearm muscles on hemiplegic side (r = 0.336-0.554) After KT intervention, the SWV in FCR decreased (p = 0.028). Muscle spasticity was reduced (p < 0.01), and distal part of the Brunnstrom stage and FMA-UE were increased (p = 0.045 and p = 0.001). In patients without KT intervention, only the MTS degree reduced (p = 0.026). Conclusions: The SWV of sonoelastography could objectively assess the reduction of muscle stiffness of the affected forearms in patients with PSS after KT intervention. Advances in Knowledge. Sonoelastography could be a quantitative method to follow up for therapeutic effect of the spastic forearm.

Use of shear wave elastography to analyze the muscle structure in children with spastic cerebral palsy.

PURPOSE: In children with cerebral palsy (CP), gastrocnemius muscle spasticity may lead to pes equinus posture which causes insufficient ankle joint dorsiflexion for normal gait. The aim of this study was to analyze the stiffness of gastrocnemius and tibialis anterior muscles by shear wave elastography (SWE) in children with pes equinus deformity due to spastic CP. METHODS: 24 legs of 12 children (6 females and 6 males, mean age 45.8 months) with CP were prospectively included in the study. Tissue stiffness quantification with shear-wave velocity (SWV) was analyzed. RESULTS: The mean SWVs of the gastrocnemius and tibialis anterior muscles were 3.91±0.26 m/s and 2.67±0.18 m/s, respectively. The stiffness of the gastrocnemius muscle was significantly higher than the stiffness of the tibialis anterior muscle (p < 0.0001). There was no correlation between the stiffness of these muscles (r = 0.129, p > 0.05). CONCLUSION: Gastrocnemius muscles were stiffer than tibialis anterior muscles in patients with spastic CP. But stiffness between these muscles was not correlated with each other. Pes equinus may be related to stiff gastrocnemius in these patients. This study demonstrates the clinical potential for SWE as a non-invasive tool for analyzing calf muscle stiffness.

Diagnostic Optic Nerve Features in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.

This case report describes the optic nerve features of a male patient aged 23 years with a diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Clinical and Molecular Findings of Autosomal Recessive Spastic Ataxia of Charlevoix Saguenay: an Iranian Case Series Expanding the Genetic and Neuroimaging Spectra.

Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS) is now increasingly identified from all countries over the world, possibly rendering it one of the most common autosomal recessive ataxias. Here, we selected patients harboring SACS variants, the causative gene for ARSACS, in a large cohort of 137 patients with early-onset ataxia recruited from May 2019 to May 2021 and were referred to the ataxia clinic. Genetic studies were performed for 111 out of 137 patients (81%) which led to a diagnostic rate of 72.9% (81 out of 111 cases). Ten patients with the molecular diagnosis of ARSACS were identified. We investigated the phenotypic and imaging spectra of all confirmed patients with ARSACS. We also estimated the frequency of ARSACS in this cohort and described their clinical and genetic findings including seven novel variants as well as novel neuroimaging findings. While the classic clinical triad of ARSACS is progressive cerebellar ataxia, spasticity, and sensorimotor polyneuropathy, it is not a constant feature in all patients. Sensorimotor axonal-demyelinating neuropathy was detected in all of our patients, but spasticity and extensor plantar reflex were absent in 50% (5/10). In all patients, brain magnetic resonance imaging (MRI) showed symmetric linear hypointensities in the pons (pontine stripes) and anterior superior cerebellar atrophy as well as a hyperintense rim around the thalami (thalamic rim). Although infratentorial arachnoid cyst has been reported in ARSACS earlier, we report anterior temporal arachnoid cyst in two patients for the first time, indicating that arachnoid cyst may be an associated imaging feature of ARSACS. We also extended molecular spectrum of ARSACS by presenting 8 pathogenic and one variant of unknown significance (VUS) sequence variants, which 7 of them have not been reported previously. MetaDome server confirmed that the identified VUS variant was in the intolerant regions of sacsin protein encoded by SACS.

Ultrasound Assessment of Spastic Muscles in Ambulatory Chronic Stroke Survivors Reveals Function-Dependent Changes.

OBJECTIVE: To correlate ultrasound characteristics of spastic muscles with clinical and functional measurements in chronic stroke survivors. METHODS: Ultrasound assessment and clinical and functional assessments were performed in 28 ambulatory stroke survivors (12 females, mean age 57.8 ± 11.8 years, 76 ± 45 months after stroke). RESULTS: Muscle thickness in the affected side was decreased compared with the contralateral side (p < 0.001). The decrease was more evident in the upper limb muscles. On the affected side, the modified Heckmatt scale score was lowest (closer to normal) in the rectus femoris (RF) muscle compared with other muscles (biceps brachii (BB), flexor carpi ulnaris (FCU) and medial gastrocnemius (MG)). Muscle thickness and echogenicity of spastic muscles did not correlate with spasticity, as measured with the modified Ashworth scale (MAS), Fugl-Meyer motor assessment scores, age, or time since stroke. There was a significant negative correlation between grip strength and percentage decrease in muscle thickness for the spastic FCU muscle (r = -0.49, p = 0.008). RF muscle thickness correlated with ambulatory function (Timed Up and Go test (r = 0.44, p = 0.021) and 6-metre walk test (r = 0.41, p = 0.032)). There was no significant correlation between echogenicity and functional assessments Conclusion: Ambulatory chronic stroke survivors had function-dependent changes in muscle thickness on the affected side. Muscle thickness and echogenicity of spastic muscles did not correlate with spasticity, Fugl-Meyer motor assessment scores, age, or time since stroke.

Spastic muscle stiffness evaluated using ultrasound elastography and evoked electromyogram in patients following severe traumatic brain injury: an observational study.

OBJECTIVE: To determine the relationship between muscle stiffness assessed using ultrasound shear wave elastography, spinal motor neuron excitability assessed using the F wave, and clinical findings of spasticity in patients with spastic muscle overactivity following severe traumatic brain injury. METHODS: This study enrolled 17 inpatients with severe traumatic brain injury and 20 healthy volunteers. Biceps brachii muscle stiffness was then evaluated using ultrasound shear wave speed. Spinal motor neuron excitability was evaluated using the F/M ratio recorded from abductor pollicis brevis muscle. Clinical parameters, such as the modified Ashworth scale and modified Tardieu scale, were assessed in the patient with traumatic brain injury. RESULTS: The patients with traumatic brain injury group had a significantly higher shear wave speed and F/M ratio compared with the healthy group. A higher shear wave speed was correlated with higher clinical spastic severity in patients with traumatic brain injury. The F/M ratio was not significantly correlated with clinical spastic severity. CONCLUSION: Ultrasound shear wave elastography might be helpful for assessing muscle stiffness in patients with spastic muscle overactivity following severe traumatic brain injury. Further studies comprising larger cohorts are warranted.

Shear wave elastography of the brachioradialis spastic muscle and its correlations with biceps brachialis and clinical scales.

BACKGROUND: Shear wave elastography technique estimates biological tissue shear elastic modulus (µ[kPa]), which can be used as an objective, muscle-specific indicator of stiffness increase caused by spasticity. We measured both the brachioradialis and biceps brachialis µ in hemiparetic post-stroke patients (n = 11). The spastic arm was compared with the supposedly non-affected contralateral limb and correlated with Fugl-Meyer Assessment and Modified Ashworth Scales. METHODS: Shear elastic modulus was estimated using an Aixplorer V.9 ultrasound device with the elbow at full extension. Average shear elastic modulus t-test, effect sizes, correlation matrix, spider plots and factor analysis were used to check for differences between spastic and nonspastic sides and explore relationships among the variables. FINDINGS: Spastic brachioradialis µ (22.54 ± 11.59 kPa) and biceps brachialis (26.86 ± 12.07 kPa) were significantly greater than the non-spastic counterparts (13.13 ± 2.81 kPa, p = 0.031, ηp2 = 0.3846 for brachioradialis and 15.25 ± 5.00 kPa, p = 0.007, ηp2 = 0.5345 for biceps brachialis). Significant correlations were observed between the spastic brachioradialis and biceps µ and Modified Ashworth Scales, but no correlation with Fugl-Meyer Assessment. INTERPRETATION: Elastography can provide muscle-specific shear elastic modulus estimations of spastic brachioradialis and biceps brachialis, which are distinct from the nonspastic side. In some patients, there was no clear correspondence of the Fugl-Meyer Assessment functional scale with Modified Ashworth Scales and µ, suggesting that spasticity is not the only determinant of arm function. Additionally, shear wave elastography of brachioradialis and biceps brachialis muscles may guide the spasticity treatment, for instance, selecting the preferable candidate for botulinum toxin therapy.

Shared and distinct voxel-based lesion-symptom mappings for spasticity and impaired movement in the hemiparetic upper limb.

Hemiparesis and spasticity are common co-occurring manifestations of hemispheric stroke. The relationship between impaired precision and force in voluntary movement (hemiparesis) and the increment in muscle tone that stems from dysregulated activity of the stretch reflex (spasticity) is far from clear. Here we aimed to elucidate whether variation in lesion topography affects hemiparesis and spasticity in a similar or dis-similar manner. Voxel-based lesion-symptom mapping (VLSM) was used to assess the impact of lesion topography on (a) upper limb paresis, as reflected by the Fugl-Meyer Assessment scale for the upper limb and (b) elbow flexor spasticity, as reflected by the Tonic Stretch Reflex Threshold, in 41 patients with first-ever stroke. Hemiparesis and spasticity were affected by damage to peri-Sylvian cortical and subcortical regions and the putamen. Hemiparesis (but not spasticity) was affected by damage to the corticospinal tract at corona-radiata and capsular levels, and by damage to white-matter association tracts and additional regions in the temporal cortex and pallidum. VLSM conjunction analysis showed only a minor overlap of brain voxels where the existence of damage affected both hemiparesis and spasticity, suggesting that control of voluntary movement and regulation of muscle tone at rest involve largely separate parts of the motor network.

Phenotypical spectrum of SACS variants: Neuromuscular perspective of a complex neurodegenerative disorder.

OBJECTIVES: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is caused by the SACS gene variants. Main clinical features include early-onset and progressive cerebellar ataxia, spasticity, sensorimotor polyneuropathy. However, the phenotypic spectrum expanded with the increased availability of next-generation sequencing methods. MATERIALS AND METHODS: Herein, we describe the clinical features of nine patients from seven unrelated families with SACS variants from the cohort of the Neuromuscular Disorders Unit of the Neurology Department of the Istanbul University, Istanbul Faculty of Medicine. RESULTS: Seven patients were male. Seven patients in our cohort had disease onset in the first decade of life. Eight patients were born to consanguineous marriages. Distal weakness in the lower limbs was a prominent feature in all of our patients. Seven patients had ataxia, and six patients had spasticity. Interestingly, one patient showed an isolated Charcot-Marie-Tooth-like phenotype. Five patients showed sensorimotor demyelinating polyneuropathy in the nerve conduction studies. Linear pontine hypointensity was the most frequent cranial magnetic resonance imaging (MRI) abnormality. Two patients with a later disease onset had a homozygous c.11542_11544delATT (p.Ile3848del) variant. The rest of the identified variants were scattered throughout the SACS gene. CONCLUSIONS: Atypical clinical features in our patients highlight that the phenotypic spectrum of ARSACS can be observed in a wide range.

A Diagnostic Approach to Spastic ataxia Syndromes.

Spastic ataxia is characterized by the combination of cerebellar ataxia with spasticity and other pyramidal features. It is the hallmark of some hereditary ataxias, but it can also occur in some spastic paraplegias and acquired conditions. It often presents with heterogenous clinical features with other neurologic and non-neurological symptoms, resulting in complex phenotypes. In this review, the differential diagnosis of spastic ataxias are discussed and classified in accordance with inheritance. Establishing an organized classification method based on mode inheritance is fundamental for the approach to patients with these syndromes. For each differential, the clinical features, neuroimaging and genetic aspects are reviewed. A diagnostic approach for spastic ataxias is then proposed.

Changes in muscle architecture on ultrasound in patients early after stroke.

BACKGROUND: Early muscle changes are believed to occur in patients with stroke. However, there are insufficient data on the changes in muscle mass and architecture of these patients. OBJECTIVES: This study investigates differences in ultrasound-derived muscle architecture parameters of the hemiplegic upper and lower limbs in patients with subacute stroke. METHODS: This is a prospective observational study, which recruited 40 adult patients who had experienced a first ever unilateral stroke (ischemic or hemorrhagic), with a duration of < 1 month post stroke. The brachialis, vastus lateralis and medial gastrocnemius on both the hemiplegic and normal side were evaluated via ultrasound. We recorded clinical variables including Motricity Index, Modified Ashworth Scale (MAS) and Functional Independence Measure (FIM)-walk. RESULTS: We found reduced mean muscle thickness (p < 0.001) and increased echo intensity (p < 0.001) in the brachialis muscle, increased echo intensity (p = 0.002) in the vastus lateralis muscle, and reduced muscle thickness (p < 0.001) with increased echo intensity (p < 0.001) in the medial gastrocnemius muscle compared to the normal side. There were no significant correlations between ultrasound findings and Motricity Index. CONCLUSIONS: We report changes in ultrasound-derived muscle architecture in the hemiplegic limbs of patients with subacute stroke, with consistent findings of decreased muscle mass and increased echo intensity.