The Experts below are selected from a list of 1695 Experts worldwide ranked by ideXlab platform
Karla P Figueroa - One of the best experts on this subject based on the ideXlab platform.
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comprehensive systematic review summary treatment of cerebellar motor dysfunction and ataxia report of the guideline development dissemination and implementation subcommittee of the american academy of neurology
Neurology, 2018Co-Authors: Theresa A Zesiewicz, George Wilmot, Shenghan Kuo, Susan Perlman, Patricia E Greenstein, Sarah H Ying, Tetsuo Ashizawa, S Subramony, Jeremy D Schmahmann, Karla P FigueroaAbstract:Objective To systematically review evidence regarding ataxia treatment. Methods A comprehensive systematic review was performed according to American Academy of Neurology methodology. Conclusions For patients with episodic ataxia type 2, 4-aminopyridine 15 mg/d probably reduces ataxia attack frequency over 3 months (1 Class I study). For patients with ataxia of mixed etiology, riluzole probably improves ataxia signs at 8 weeks (1 Class I study). For patients with Friedreich ataxia or Spinocerebellar ataxia (SCA), riluzole probably improves ataxia signs at 12 months (1 Class I study). For patients with SCA type 3, valproic acid 1,200 mg/d possibly improves ataxia at 12 weeks. For patients with Spinocerebellar Degeneration, thyrotropin-releasing hormone possibly improves some ataxia signs over 10 to 14 days (1 Class II study). For patients with SCA type 3 who are ambulatory, lithium probably does not improve signs of ataxia over 48 weeks (1 Class I study). For patients with Friedreich ataxia, deferiprone possibly worsens ataxia signs over 6 months (1 Class II study). Data are insufficient to support or refute the use of numerous agents. For nonpharmacologic options, in patients with degenerative ataxias, 4-week inpatient rehabilitation probably improves ataxia and function (1 Class I study); transcranial magnetic stimulation possibly improves cerebellar motor signs at 21 days (1 Class II study). For patients with multiple sclerosis–associated ataxia, the addition of pressure splints possibly has no additional benefit compared with neuromuscular rehabilitation alone (1 Class II study). Data are insufficient to support or refute use of stochastic whole-body vibration therapy (1 Class III study).
Roberto Giugliani - One of the best experts on this subject based on the ideXlab platform.
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neurologic findings in machado joseph disease relation with disease duration subtypes and cag n
JAMA Neurology, 2001Co-Authors: Laura Bannach Jardim, Maria Luiza Saraiva Pereira, Isabel Silveira, Anabela Ferro, Jorge Sequeiros, Roberto GiuglianiAbstract:Context: Machado-Joseph disease (MJD), an autoso- mal dominant Spinocerebellar Degeneration caused by an expanded CAG repeat on chromosome 14q32.1, is a het- erogeneous disorder for clinical manifestations. The rea- sons for the wide range of neurologic findings in this dis- ease are poorly understood. Objective: To explain part of this heterogeneity through the association of the neurologic findings with sex, dis- ease duration, age of onset, clinical type, and size of CAG repeat expansion. Design: A case-control study. Setting: Ambulatory care. and ophthalmoplegia (P,.02). The most severe forms of nuclear ophthalmoplegia were associated with type 1 MJD, whereas those of supranuclear ophthalmoplegia were as- sociated with type 3 MJD (P,.001). It was also found that higher mean (CAG)n lengths were associated with worse degrees of the pyramidal syndrome and dystonia (P,.001). The presence and severity of nystagmus, eye- lid retraction, rigidity and/or bradykinesia, and optic at- rophy were not clearly associated with any of the pre- dictive variables under study. Conclusions: Disease duration can explain part of the heterogeneity of ataxia, dysarthria, dysphagia, fascicu- lations, pyramidal syndrome, and ophthalmoplegia, in MJD. Type 1 MJD was positively associated with nuclear ophthalmoplegia; type 3 MJD was positively associated with supranuclear ophthalmoplegia. Higher mean CAG lengths were found to correlate with the pyramidal syn- drome and dystonia. Nystagmus, eyelid retraction, ri- gidity and/or bradykinesia, and optic atrophy were hardly attributable to any known reason or variable. Arch Neurol. 2001;58:899-904
S Courtois - One of the best experts on this subject based on the ideXlab platform.
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epidemiological clinical paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from alsace eastern france implications for clinical management
Neurogenetics, 2010Co-Authors: Mathieu Anheim, M Fleury, B Monga, V Laugel, D Chaigne, G Rodier, E Ginglinger, C Boulay, S CourtoisAbstract:While Friedreich's ataxia (FRDA) and ataxia telangiectasia (AT) are known to be the two most frequent forms of autosomal recessive cerebellar ataxia (ARCA), knowledge on the other forms of ARCA has been obtained only recently, and they appear to be rarer. Little is known about the epidemiological features and the relative frequency of the ARCAs and only few data are available about the comparative features of ARCAs. We prospectively studied 102 suspected ARCA cases from Eastern France (including 95 from the Alsace region) between 2002 and 2008. The diagnostic procedure was based on a sequential strategic scheme. We examined the clinical, paraclinical and molecular features of the large cohort of patients and compared features and epidemiology according to molecular diagnosis. A molecular diagnosis could be established for 57 patients; 36 were affected with FRDA, seven with ataxia plus oculomotor apraxia type 2 (AOA2), four with AT, three with ataxia plus oculomotor apraxia type 1 (AOA1), three with Marinesco-Sjogren syndrome, two with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), one with ataxia with vitamin E deficiency (AVED) and one with autosomal recessive cerebellar ataxia type 2 (ARCA2). The group of patients with no identified mutation had a significantly lower Spinocerebellar Degeneration functional score corrected for disease duration (SDFS/DD ratio; p = 0.002) and comprised a significantly higher proportion of cases with onset after 20 years (p < 0.01). Extensor plantar reflexes were rarer and cerebellar atrophy was more frequent in the group of patients with a known non-Friedreich ARCA compared to all other patients (p < 0.0001 and p = 0.0003, respectively). Lower limb areflexia and electroneuromyographic evidences of peripheral neuropathy were more frequent in the Friedreich ataxia group than in the group with a known non-Friedreich ataxia and were more frequent in the later group than in the group with no identified mutation (p = 0.0001 and p = 0.01, respectively). The overall prevalence of ARCA in Alsace is 1/19,000. We can infer the prevalence of FRDA in Alsace to be 1/50,000 and infer that AT is approximately eight times less frequent than FRDA. MSS, AOA2 and ARSACS appear only slightly less frequent than AT. Despite the broad variability of severity, Friedreich ataxia patients are clinically distinct from the other forms of ARCA. Patients with no identified mutation have more often a pure cerebellar degenerative disease or a spastic ataxia phenotype. It appears that ARCA cases can be divided into two major groups of different prognosis, an early-onset group with a highly probable genetic cause and an adult-onset group with better prognosis for which a genetic cause is more difficult to prove but not excluded. ARCAs are rare, early-disabling and genetically heterogeneous diseases dominated by FRDA. Several of the recently identified ARCAs, such as AVED, ARSACS, AOA1, AOA2 and MSS, have a prevalence close to AT and should be searched for extensively irrespective of ethnic origins. The strategic scheme is a useful tool for the diagnosis of ARCAs in clinical practice.
B Monga - One of the best experts on this subject based on the ideXlab platform.
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epidemiological clinical paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from alsace eastern france implications for clinical management
Neurogenetics, 2010Co-Authors: Mathieu Anheim, M Fleury, B Monga, V Laugel, D Chaigne, G Rodier, E Ginglinger, C Boulay, S CourtoisAbstract:While Friedreich's ataxia (FRDA) and ataxia telangiectasia (AT) are known to be the two most frequent forms of autosomal recessive cerebellar ataxia (ARCA), knowledge on the other forms of ARCA has been obtained only recently, and they appear to be rarer. Little is known about the epidemiological features and the relative frequency of the ARCAs and only few data are available about the comparative features of ARCAs. We prospectively studied 102 suspected ARCA cases from Eastern France (including 95 from the Alsace region) between 2002 and 2008. The diagnostic procedure was based on a sequential strategic scheme. We examined the clinical, paraclinical and molecular features of the large cohort of patients and compared features and epidemiology according to molecular diagnosis. A molecular diagnosis could be established for 57 patients; 36 were affected with FRDA, seven with ataxia plus oculomotor apraxia type 2 (AOA2), four with AT, three with ataxia plus oculomotor apraxia type 1 (AOA1), three with Marinesco-Sjogren syndrome, two with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), one with ataxia with vitamin E deficiency (AVED) and one with autosomal recessive cerebellar ataxia type 2 (ARCA2). The group of patients with no identified mutation had a significantly lower Spinocerebellar Degeneration functional score corrected for disease duration (SDFS/DD ratio; p = 0.002) and comprised a significantly higher proportion of cases with onset after 20 years (p < 0.01). Extensor plantar reflexes were rarer and cerebellar atrophy was more frequent in the group of patients with a known non-Friedreich ARCA compared to all other patients (p < 0.0001 and p = 0.0003, respectively). Lower limb areflexia and electroneuromyographic evidences of peripheral neuropathy were more frequent in the Friedreich ataxia group than in the group with a known non-Friedreich ataxia and were more frequent in the later group than in the group with no identified mutation (p = 0.0001 and p = 0.01, respectively). The overall prevalence of ARCA in Alsace is 1/19,000. We can infer the prevalence of FRDA in Alsace to be 1/50,000 and infer that AT is approximately eight times less frequent than FRDA. MSS, AOA2 and ARSACS appear only slightly less frequent than AT. Despite the broad variability of severity, Friedreich ataxia patients are clinically distinct from the other forms of ARCA. Patients with no identified mutation have more often a pure cerebellar degenerative disease or a spastic ataxia phenotype. It appears that ARCA cases can be divided into two major groups of different prognosis, an early-onset group with a highly probable genetic cause and an adult-onset group with better prognosis for which a genetic cause is more difficult to prove but not excluded. ARCAs are rare, early-disabling and genetically heterogeneous diseases dominated by FRDA. Several of the recently identified ARCAs, such as AVED, ARSACS, AOA1, AOA2 and MSS, have a prevalence close to AT and should be searched for extensively irrespective of ethnic origins. The strategic scheme is a useful tool for the diagnosis of ARCAs in clinical practice.
Theresa A Zesiewicz - One of the best experts on this subject based on the ideXlab platform.
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comprehensive systematic review summary treatment of cerebellar motor dysfunction and ataxia report of the guideline development dissemination and implementation subcommittee of the american academy of neurology
Neurology, 2018Co-Authors: Theresa A Zesiewicz, George Wilmot, Shenghan Kuo, Susan Perlman, Patricia E Greenstein, Sarah H Ying, Tetsuo Ashizawa, S Subramony, Jeremy D Schmahmann, Karla P FigueroaAbstract:Objective To systematically review evidence regarding ataxia treatment. Methods A comprehensive systematic review was performed according to American Academy of Neurology methodology. Conclusions For patients with episodic ataxia type 2, 4-aminopyridine 15 mg/d probably reduces ataxia attack frequency over 3 months (1 Class I study). For patients with ataxia of mixed etiology, riluzole probably improves ataxia signs at 8 weeks (1 Class I study). For patients with Friedreich ataxia or Spinocerebellar ataxia (SCA), riluzole probably improves ataxia signs at 12 months (1 Class I study). For patients with SCA type 3, valproic acid 1,200 mg/d possibly improves ataxia at 12 weeks. For patients with Spinocerebellar Degeneration, thyrotropin-releasing hormone possibly improves some ataxia signs over 10 to 14 days (1 Class II study). For patients with SCA type 3 who are ambulatory, lithium probably does not improve signs of ataxia over 48 weeks (1 Class I study). For patients with Friedreich ataxia, deferiprone possibly worsens ataxia signs over 6 months (1 Class II study). Data are insufficient to support or refute the use of numerous agents. For nonpharmacologic options, in patients with degenerative ataxias, 4-week inpatient rehabilitation probably improves ataxia and function (1 Class I study); transcranial magnetic stimulation possibly improves cerebellar motor signs at 21 days (1 Class II study). For patients with multiple sclerosis–associated ataxia, the addition of pressure splints possibly has no additional benefit compared with neuromuscular rehabilitation alone (1 Class II study). Data are insufficient to support or refute use of stochastic whole-body vibration therapy (1 Class III study).
