Mobility Characteristics of Children with Spastic Paraplegia Due to a Mutation in the KIF1A Gene

2019 ◽  
Vol 51 (02) ◽  
pp. 146-153 ◽  
Author(s):  
A.E. Van Beusichem ◽  
J. Nicolai ◽  
J. Verhoeven ◽  
L. Speth ◽  
M. Coenen ◽  
...  
Keyword(s):  
De Novo ◽  
Gait Pattern ◽  
Secondary Development ◽  
Spastic Paraplegia ◽  
Patients Âgés ◽  
Gait Characteristics ◽  
Abnormal Gait ◽  
Complicated Form ◽  
Crouch Gait

AbstractSeveral de novo variants in the KIF1A gene have been reported to cause a complicated form of hereditary spastic paraplegia. Additional symptoms include cognitive impairment and varying degrees of peripheral neuropathy, epilepsy, decreased visual acuity, and ataxia. We describe four patients (ages 10–18 years), focusing on their mobility and gait characteristics. Two patients were not able to walk without assistance and showed a severe abnormal gait pattern, crouch gait. At examination, severe contractures were found.In addition to describing the different phenotypes with specific attention to gait in our cases, we reviewed known KIF1A mutations and summarized their associated phenotypes.We conclude that mobility and cognition are severely affected in children with spastic paraplegia due to de novo KIF1A mutations. Deterioration in mobility is most likely due to progressive spasticity, muscle weakness, and the secondary development of severe contractures, possibly combined with an additional progressive polyneuropathy. Close follow-up and treatment of these patients are warranted.

scholarly journals A p.Arg499His mutation in SPAST is associated with infantile-onset complicated spastic paraplegia: a case report and review of the literature

BMC Neurology ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Haitian Nan ◽  
Hiroshi Shiraku ◽  
Tomoko Mizuno ◽  
Yoshihisa Takiyama
Keyword(s):  
Japanese Patient ◽  
De Novo ◽  
Complex Form ◽  
Review Of The Literature ◽  
Spastic Paraplegia ◽  
Phenotype Correlation ◽  
Spastic Paralysis ◽  
Hereditary Spastic Paraplegias ◽  
Genotype Phenotype Correlation ◽  
Complicated Form

Abstract Background Spastic paraplegia type 4 (SPG4) is caused by mutations in the SPAST gene, is the most common form of autosomal-dominant pure hereditary spastic paraplegias (HSP), and is rarely associated with a complicated form that includes ataxia, epilepsy, and cognitive decline. To date, the genotype-phenotype correlation has not been substantially established for SPAST mutations. Case presentation We present a Japanese patient with infantile-onset HSP and a complex form with coexisting ataxia and epilepsy. The sequencing of SPAST revealed a de novo c.1496G > A (p.R499H) mutation. A review of the literature revealed 16 additional patients with p.R499H mutations in SPAST associated with an early-onset complicated form of HSP. We found that the complicated phenotype of patients with p.Arg499His mutations could be mainly divided into three subgroups: (1) infantile-onset ascending hereditary spastic paralysis, (2) HSP with severe dystonia, and (3) HSP with cognitive impairment. Moreover, the c.1496G > A mutation in SPAST may occur as a de novo variant at noticeably high rates. Conclusion We reviewed the clinical features of the patients reported in the literature with the p.Arg499His mutation in SPAST and described the case of a Japanese patient with this mutation presenting a new complicated form. Accumulating evidence suggests a possible association between infantile-onset complicated HSP and the p.Arg499His mutation in SPAST. The findings of this study may expand the clinical spectrum of the p.Arg499His mutation in SPAST and provide an opportunity to further study the genotype-phenotype correlation of SPG4.

scholarly journals Evaluation of infrapatellar tendon plication in spastic cerebral palsy with crouch gait pattern: a pilot study

SICOT-J ◽  
2020 ◽  
Vol 6 ◽  
pp. 40
Author(s):  
Mohamed Tageldeen Mohamed ◽  
Mohamed Elsobky ◽  
Mohamed Hegazy ◽  
Hassan M. Elbarbary ◽  
Mohamed Mostafa Abdelmohsen ◽  
...  
Keyword(s):  
Cerebral Palsy ◽  
Pilot Study ◽  
Gait Pattern ◽  
Patella Alta ◽  
Spastic Cerebral Palsy ◽  
Spastic Diplegia ◽  
Skeletally Immature ◽  
Superficial Infection ◽  
Crouch Gait

Objective: In order to substantially improve crouch pattern in cerebral palsy, the existent patella alta needs to be addressed. This pilot study evaluates the effectiveness of a previously described infrapatellar tendon plication for the treatment of patella alta in crouch gait pattern in skeletally immature spastic cerebral palsy patients. Methods: In 10 skeletally immature patients (20 knees) with spastic diplegia and crouch gait, the previously described technique by Joseph et al. for infrapatellar tendon plication was evaluated within the setting of single event multilevel surgery (SEMLS). Outcome measures included knee extension lag, Koshino’s radiological index for patella alta, and the occurrence of complications. Patients were followed-up for a minimum of 12 months. Results: The extensor lag improved and was statistically significant in all cases of the study with no incidence of tibial apophyseal injury at the latest follow-up. Radiographic Koshino index normalized and was maintained all through the follow-up period except in one patient (5%) who was overcorrected. Two patients (4 knees, 20%) showed postoperative knee stiffness due to casting which resolved with physiotherapy within six weeks. One knee (5%) developed a superficial infection which also resolved uneventfully with repeated dressings. Conclusion: The described infra-patellar plication technique in skeletally immature spastic diplegics appears effective, safe, and reproducible.

Eine Therapie mit Everolimus und reduziertem Ciclosporin kann das Krebsrisiko von Nierentransplantierten verringern* (Sponsor: Novartis Pharma GmbH, Nürnberg)

2017 ◽  
Vol 05 (01) ◽  
pp. 22-22
Keyword(s):  
New Zealand ◽  
De Novo

ZusammenfassungDie Verknüpfung der A2309-Studie mit dem Australia and New Zealand Dialysis and Transplant (ANZDATA) Register erlaubte ein Follow up von 7 Jahren. Die Autoren bezeichnen diese Analyse als die bisher überzeugendste Evidenz, dass eine Immunsuppression mit de novo Everolimus und reduziertem Ciclosporin langfristig mit einer geringeren Krebsinzidenz nach Nierentransplantation assoziiert ist als die Standardtherapie.

Hereditary motor and sensory neuropathy type V or complicated form of spastic paraplegia?

2006 ◽  
Vol 37 (01) ◽  
Author(s):  
L Schöls ◽  
R Schüle ◽  
B Mauko ◽  
M Auer-Grumbach ◽  
L Schöls
Keyword(s):  
Sensory Neuropathy ◽  
Spastic Paraplegia ◽  
Hereditary Motor ◽  
Complicated Form ◽  
Type V ◽  
Motor And Sensory Neuropathy

BioMime – A Sirolimus-eluting Coronary Stent System for the Treatment of Patients with De Novo Coronary Lesions – meriT-1 Report

2011 ◽  
Vol 6 (1) ◽  
pp. 39
Author(s):  
Keyword(s):  
Stent Thrombosis ◽  
Time Course ◽  
De Novo ◽  
Drug Eluting Stent ◽  
Cobalt Chromium ◽  
Cardiac Events ◽  
End Points ◽  
Safety And Efficacy ◽  
Binary Restenosis

Background:Since the first reported use of percutaneous transluminal coronary angioplasty, advances in the interventional cardiology arena have been fast paced. Developers and clinicians are adapting from the learning curve awarded by the time-course of drug-eluting stent (DES) evolution. BioMime™ sirolimus-eluting stent (SES) is a step towards biomimicry. The stent is built on a strut of ultra-low thickness (65μm), a cobalt–chromium platform using an intelligent hybrid of closed and open cells allowing for morphology-mediated expansion. It employs a well-known antiproliferative – sirolimus – that elutes from a known biodegradable copolymer formulation within 30 days. The resultant stent demonstrates almost 100% endothelialisation at 30 days in preclinical models.Methods:The meriT-1 was a prospective, single-arm, single-centre trial to evaluate the safety and efficacy of BioMime SES in 30 patients with a single de novo lesion in native coronary arteries. The primary safety and efficacy end-points were major adverse cardiac events (MACE) at 30 days and in-stent late lumen loss at eight months, as measured using quantitative coronary angiographic (QCA) method. Secondary safety and efficacy end-points included MACE at one and two years and angiographic binary restenosis at eight-month angiographic follow-up. Other end-points included the occurrence of stent thrombosis at acute, subacute, late and very late periods and the percentage of diameter stenosis by QCA.Results:No MACE were observed and the median in-stent late luminal loss in 20 (67%) subjects studied by QCA was 0.15mm, with 0% binary restenosis at eight-month follow-up. No stent thrombosis was observed up to one-year follow-up.Conclusions:In comparison to currently available DES, BioMime SES appears to have a considerable scientific basis for prevention of neointimal proliferation, restenosis and associated clinical events.

Is 3 years adequate for tracking completely occluded coiled aneurysms?

2020 ◽  
Vol 133 (3) ◽  
pp. 758-764
Author(s):  
Eung Koo Yeon ◽  
Young Dae Cho ◽  
Dong Hyun Yoo ◽  
Su Hwan Lee ◽  
Hyun-Seung Kang ◽  
...  
Keyword(s):  
De Novo ◽  
Careful Monitoring ◽  
Surveillance Period ◽  
Radiological Data ◽  
De Novo Aneurysm ◽  
Low Probability ◽  
Almost All ◽  
Annual Risk

OBJECTIVEThe authors conducted a study to ascertain the long-term durability of coiled aneurysms completely occluded at 36 months’ follow-up given the potential for delayed recanalization.METHODSIn this retrospective review, the authors examined 299 patients with 339 aneurysms, all shown to be completely occluded at 36 months on follow-up images obtained between 2011 and 2013. Medical records and radiological data acquired during the extended monitoring period (mean 74.3 ± 22.5 months) were retrieved, and the authors analyzed the incidence of (including mean annual risk) and risk factors for delayed recanalization.RESULTSA total of 5 coiled aneurysms (1.5%) occluded completely at 36 months showed recanalization (0.46% per aneurysm-year) during the long-term surveillance period (1081.9 aneurysm-years), 2 surfacing within 60 months and 3 developing thereafter. Four showed minor recanalization, with only one instance of major recanalization. The latter involved the posterior communicating artery as an apparent de novo lesion, arising at the neck of a firmly coiled sac, and was unrelated to coil compaction or growth. Additional embolization was undertaken. In a multivariate analysis, a second embolization for a recurrent aneurysm (HR = 22.088, p = 0.003) independently correlated with delayed recanalization.CONCLUSIONSAlmost all coiled aneurysms (98.5%) showing complete occlusion at 36 months postembolization proved to be stable during extended observation. However, recurrent aneurysms were predisposed to delayed recanalization. Given the low probability yet seriousness of delayed recanalization and the possibility of de novo aneurysm formation, careful monitoring may be still considered in this setting but at less frequent intervals beyond 36 months.

Cerebellotrigeminal Dermal Dysplasia (Gómez-López-Hernández Syndrome)

2018 ◽  
Vol 16 (05) ◽  
pp. 362-368 ◽  
Author(s):  
Federica Sullo ◽  
Agata Polizzi ◽  
Stefano Catanzaro ◽  
Selene Mantegna ◽  
Francesco Lacarrubba ◽  
...  
Keyword(s):  
De Novo ◽  
Chromosomal Rearrangements ◽  
Number Of Patients ◽  
Wide Range ◽  
Visual Problems ◽  
Neurodevelopmental Abnormalities ◽  
Clinical Triad ◽  
High Degree ◽  
Motor Handicap

Cerebellotrigeminal dermal (CTD) dysplasia is a rare neurocutaneous disorder characterized by a triad of symptoms: bilateral parieto-occipital alopecia, facial anesthesia in the trigeminal area, and rhombencephalosynapsis (RES), confirmed by cranial magnetic resonance imaging. CTD dysplasia is also known as Gómez-López-Hernández syndrome. So far, only 35 cases have been described with varying symptomatology. The etiology remains unknown. Either spontaneous dominant mutations or de novo chromosomal rearrangements have been proposed as possible explanations. In addition to its clinical triad of RES, parietal alopecia, and trigeminal anesthesia, CTD dysplasia is associated with a wide range of phenotypic and neurodevelopmental abnormalities.Treatment is symptomatic and includes physical rehabilitation, special education, dental care, and ocular protection against self-induced corneal trauma that causes ulcers and, later, corneal opacification. The prognosis is correlated to the mental development, motor handicap, corneal–facial anesthesia, and visual problems. Follow-up on a large number of patients with CTD dysplasia has never been reported and experience is limited to few cases to date. High degree of suspicion in a child presenting with characteristic alopecia and RES has a great importance in diagnosis of this syndrome.

scholarly journals 64 Use of sirolimus-coated balloon in De novo lesions; mid-term follow-up from a single-centre registry

2021 ◽  
Author(s):  
Bhagya Harindi Loku Waduge ◽  
Harkaran Kalkat ◽  
Ameenathul Mazaya Fawzy ◽  
Abdullah Saif ◽  
Sampath Athukorala ◽  
...  
Keyword(s):  
De Novo ◽  
Single Centre

scholarly journals Improvement of Gait Dysfunction after Applying a Hinged Ankle–Foot Orthosis in a Hemiplegic Cerebral Palsy Patient with Disrupted Medial Lemniscus: A Case Report

Children ◽  
2021 ◽  
Vol 8 (2) ◽  
pp. 81
Author(s):  
Su Min Son ◽  
Min Cheol Chang
Keyword(s):  
Knee Flexion ◽  
Diffusion Tensor ◽  
Therapeutic Option ◽  
Gait Pattern ◽  
Ankle Dorsiflexion ◽  
Medial Lemniscus ◽  
Abnormal Gait ◽  
Hemiplegic Cerebral Palsy ◽  
Genu Recurvatum ◽  
Magnetic Resonance Imaging Mri

We describe the successful application of hinged ankle−foot orthoses (AFOs) in a cerebral palsied (CP) patient with gait instability due to a disrupted medial lemniscus (ML). The patient was a 27-month-old male CP child with gait instability who presented with reduced knee flexion and ankle dorsiflexion, with severe genu recurvatum on his right lower extremity during gait. The patient had no motor weakness or spasticity. Conventional magnetic resonance imaging (MRI) revealed no definite abnormal lesion. However, diffusion tensor tractography (DTT) showed disruption of the left ML, consistent with right hemiplegic symptoms. The integrity of the major motor-related neural tracts, including the corticospinal and corticoreticulospinal tracts, was preserved. We considered that the patient’s abnormal gait pattern was related to the disrupted ML state. We applied hinged AFOs, which immediately resulted in a significantly stabilized gait. The angles of knee flexion and ankle dorsiflexion increased. Our findings indicate that the application of hinged AFOs could be a useful therapeutic option for CP patients with gait instability related to ML disruption. In addition, we showed that DTT is a useful tool for identifying the causative brain pathology in CP patients, especially when conventional brain MRIs show no specific lesion.

scholarly journals Long-term outcomes of fully covered self-expandable metal stents versus plastic stents in chronic pancreatitis

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Sang Hoon Lee ◽  
Yeon Suk Kim ◽  
Eui Joo Kim ◽  
Hee Seung Lee ◽  
Jeong Youp Park ◽  
...  
Keyword(s):  
Chronic Pancreatitis ◽  
Clinical Efficacy ◽  
De Novo ◽  
Plastic Stents ◽  
Metal Stents ◽  
Plastic Stent ◽  
Sems Group ◽  
Spontaneous Migration

AbstractChronic pancreatitis (CP) related main pancreatic duct (MPD) stricture has been a challenge for endoscopists. Fully covered self-expandable metal stents (FC-SEMS) has been tried in CP patients, but the efficacy and safety are still controversial. Thus, we aim to compare the long-term clinical efficacy of FC-SEMS vs. plastic stent placement in persistent MPD strictures secondary to CP. Between 2007 and 2018, 80 chronic pancreatitis patients (58 males, median age 49 years), who underwent endoscopic placement of FC-SEMS (n = 26) and plastic stent (n = 54) for persistent MPD strictures after at least 3 months of initial single plastic stenting, were retrospectively analyzed during a median follow-up duration of 33.7 months. As a result, MPD stricture resolution rate was statistically higher in FC-SEMS group (87.0% vs. 42.0%, p < 0.001). Although immediate complications occurred similarly (38.5% vs. 37.0%, p = 0.902), spontaneous migration (26.9%) and de novo strictures (23.1%) were pronounced delayed complications in FC-SEMS group. Pain relief during follow-up was significantly higher in FC-SEMS group (76.9% vs. 53.7%, p = 0.046). The total procedure cost was similar in both groups ($1,455.6 vs. $1,596.9, p = 0.486). In comparison with plastic stent, FC-SEMS placement for persistent MPD strictures had favorable long-term clinical efficacy, with its typical complications like spontaneous migration and de novo strictures.

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