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Article ; Online: Managing Clinical Trials for Alzheimer's Disease During the COVID-19 Crisis: Experience at Fundació ACE in Barcelona, Spain.

2020 Volume 77, Issue 4, Page(s) 1805–1813

Abstract: Background: The COVID-19 pandemic has brought great disruption to health systems worldwide. This affected ongoing clinical research, particularly among those most vulnerable to the pandemic, like dementia patients. Fundació ACE is a research center and ... ...

Abstract	Background: The COVID-19 pandemic has brought great disruption to health systems worldwide. This affected ongoing clinical research, particularly among those most vulnerable to the pandemic, like dementia patients. Fundació ACE is a research center and memory clinic based in Barcelona, Spain, one of the hardest-hit countries. Objective: To describe the ad-hoc strategic plan developed to cope with this crisis and to share its outcomes. Methods: We describe participants' clinical and demographic features. Additionally, we explain our strategic plan aimed at minimizing the impact on clinical trial research activities, which included SARS-CoV-2 RT-PCR and IgG serological tests to all participants and personnel. The outcomes of the plan are described in terms of observed safety events and drop-outs during the study period. Results: A total of 130 patients were participating in 16 active clinical trials in Fundació ACE when the lockdown was established. During the confinement, we performed 1018 calls to the participants, which led to identify adverse events in 26 and COVID-19 symptoms in 6. A total of 83 patients (64%) could restart on-site visits as early as May 11, 2020. All SARS-CoV-2 RT-PCR diagnostic tests performed before on-site visits were negative and only three IgG serological tests were positive. Throughout the study period, we only observed one drop-out, due to an adverse event unrelated to COVID-19. Discussion: The plan implemented by Fundació ACE was able to preserve safety and integrity of ongoing clinical trials. We must use the lessons learned from the pandemic and design crisis-proof protocols for clinical trials.
MeSH term(s)	Aged ; Alzheimer Disease/therapy ; Ambulatory Care Facilities ; Betacoronavirus ; COVID-19 ; COVID-19 Testing ; Clinical Laboratory Techniques ; Clinical Trials as Topic/methods ; Clinical Trials as Topic/organization & administration ; Coronavirus Infections/diagnosis ; Coronavirus Infections/epidemiology ; Coronavirus Infections/prevention & control ; Female ; Humans ; Male ; Pandemics/prevention & control ; Patient Care/methods ; Patient Care/trends ; Pneumonia, Viral/epidemiology ; Pneumonia, Viral/prevention & control ; SARS-CoV-2 ; Spain/epidemiology ; Telemedicine/methods ; Therapies, Investigational/methods
Keywords	covid19
Language	English
Publishing date	2020-09-28
Publishing country	Netherlands
Document type	Journal Article
ZDB-ID	1440127-7
ISSN	1875-8908 ; 1387-2877
ISSN (online)	1875-8908
ISSN	1387-2877
DOI	10.3233/JAD-200750
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Article ; Online: A novel small deletion in PMP22 causes a mild hereditary neuropathy with liability to pressure palsies phenotype.

Casasnovas, Carlos / Banchs, Isabel / De Jorge, Laura / Antónia Albertí, Maria / Martínez-Campo, Yolanda / Povedano, Mónica / Montero, Jordi / Volpini, Victor

Muscle & nerve

2012 Volume 45, Issue 1, Page(s) 135–138

Abstract: Introduction: In this study we examined a family with electrophysiological findings of hereditary neuropathy with liability to pressure palsies (HNPP) and a mild clinical presentation.: Methods: Four members of a family were referred for diagnosis of ...

Abstract	Introduction: In this study we examined a family with electrophysiological findings of hereditary neuropathy with liability to pressure palsies (HNPP) and a mild clinical presentation. Methods: Four members of a family were referred for diagnosis of HNPP. Electrophysiological studies included motor and sensory nerve conduction studies in the upper and lower extremities. Investigations of microsatellites, using polymorphic repeat markers flanking the gene, and multiplex ligation-dependent probe amplification (MLPA) were performed for molecular studies. Results: The initial study of microsatellites did not detect any change, but MLPA demonstrated a small deletion of exon 5 in the PMP22 gene. Conclusion: Our findings demonstrate the important role of small deletions in the PMP22 gene in the etiology of HNPP with a normal microsatellite study.
MeSH term(s)	Adult ; Chromosomes, Human, Pair 17 ; Humans ; Male ; Middle Aged ; Myelin Proteins/genetics ; Neural Conduction/genetics ; Paralysis/complications ; Paralysis/genetics ; Polyneuropathies/complications ; Polyneuropathies/genetics ; Sequence Deletion/genetics
Chemical Substances	Myelin Proteins ; PMP22 protein, human
Language	English
Publishing date	2012-01
Publishing country	United States
Document type	Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	438353-9
ISSN	1097-4598 ; 0148-639X
ISSN (online)	1097-4598
ISSN	0148-639X
DOI	10.1002/mus.22201
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Article ; Online: Heterozygous

Neurology

2018 Volume 91, Issue 21, Page(s) e1988–e1998

Abstract: Objective: To describe a new spinocerebellar ataxia (SCA48) characterized by early cerebellar cognitive-affective syndrome (CCAS) and late-onset SCA.: Methods: This is a descriptive study of a family that has been followed for more than a decade with ...

Abstract	Objective: To describe a new spinocerebellar ataxia (SCA48) characterized by early cerebellar cognitive-affective syndrome (CCAS) and late-onset SCA. Methods: This is a descriptive study of a family that has been followed for more than a decade with periodic neurologic and neuropsychological examinations, MRI, brain SPECT perfusion, and genetic analysis. Whole exome sequencing was performed in 3 affected and 1 unaffected family member and subsequently validated by linkage analysis of chromosome 16p13.3. Results: Six patients fully developed cognitive-affective and complete motor cerebellar syndrome associated with vermian and hemispheric cerebellar atrophy, suggesting a continuum from a dysexecutive syndrome slowly evolving to a complete and severe CCAS with late truncal ataxia. Three presymptomatic patients showed focal cerebellar atrophy in the vermian, paravermian, and the medial part of cerebellar lobes VI and VII, suggesting that cerebellar atrophy preceded the ataxia, and that the neurodegeneration begins in cerebellar areas related to cognition and emotion, spreading later to the whole cerebellum. Among the candidate variants, only the frameshift heterozygous c.823_824delCT Conclusions: We report a heterozygous
MeSH term(s)	Adult ; Female ; Heterozygote ; Humans ; Male ; Middle Aged ; Mutation ; Pedigree ; Spain ; Spinocerebellar Ataxias/genetics ; Spinocerebellar Ataxias/pathology ; Ubiquitin-Protein Ligases/genetics
Chemical Substances	STUB1 protein, human (EC 2.3.2.27) ; Ubiquitin-Protein Ligases (EC 2.3.2.27)
Language	English
Publishing date	2018-10-31
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	207147-2
ISSN	1526-632X ; 0028-3878
ISSN (online)	1526-632X
ISSN	0028-3878
DOI	10.1212/WNL.0000000000006550
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Article: Managing Clinical Trials for Alzheimer's Disease During the COVID-19 Crisis: Experience at Fundació ACE in Barcelona, Spain

J Alzheimers Dis

Abstract: BACKGROUND: The COVID-19 pandemic has brought great disruption to health systems worldwide. This affected ongoing clinical research, particularly among those most vulnerable to the pandemic, like dementia patients. Fundació ACE is a research center and ... ...

Abstract	BACKGROUND: The COVID-19 pandemic has brought great disruption to health systems worldwide. This affected ongoing clinical research, particularly among those most vulnerable to the pandemic, like dementia patients. Fundació ACE is a research center and memory clinic based in Barcelona, Spain, one of the hardest-hit countries. OBJECTIVE: To describe the ad-hoc strategic plan developed to cope with this crisis and to share its outcomes. METHODS: We describe participants' clinical and demographic features. Additionally, we explain our strategic plan aimed at minimizing the impact on clinical trial research activities, which included SARS-CoV-2 RT-PCR and IgG serological tests to all participants and personnel. The outcomes of the plan are described in terms of observed safety events and drop-outs during the study period. RESULTS: A total of 130 patients were participating in 16 active clinical trials in Fundació ACE when the lockdown was established. During the confinement, we performed 1018 calls to the participants, which led to identify adverse events in 26 and COVID-19 symptoms in 6. A total of 83 patients (64%) could restart on-site visits as early as May 11, 2020. All SARS-CoV-2 RT-PCR diagnostic tests performed before on-site visits were negative and only three IgG serological tests were positive. Throughout the study period, we only observed one drop-out, due to an adverse event unrelated to COVID-19. DISCUSSION: The plan implemented by Fundació ACE was able to preserve safety and integrity of ongoing clinical trials. We must use the lessons learned from the pandemic and design crisis-proof protocols for clinical trials.
Keywords	covid19
Publisher	WHO
Document type	Article
Note	WHO #Covidence: #842728
Database	COVID19

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Article ; Online: Diagnosis of Charcot-Marie-Tooth disease.

Banchs, Isabel / Casasnovas, Carlos / Albertí, Antonia / De Jorge, Laura / Povedano, Mónica / Montero, Jordi / Martínez-Matos, Juan Antonio / Volpini, Victor

Journal of biomedicine & biotechnology

2009 Volume 2009, Page(s) 985415

Abstract: Charcot-Marie-Tooth (CMT) disease or hereditary motor and sensory neuropathy (HMSN) is a genetically heterogeneous group of conditions that affect the peripheral nervous system. The disease is characterized by degeneration or abnormal development of ... ...

Abstract	Charcot-Marie-Tooth (CMT) disease or hereditary motor and sensory neuropathy (HMSN) is a genetically heterogeneous group of conditions that affect the peripheral nervous system. The disease is characterized by degeneration or abnormal development of peripheral nerves and exhibits a range of patterns of genetic transmission. In the majority of cases, CMT first appears in infancy, and its manifestations include clumsiness of gait, predominantly distal muscular atrophy of the limbs, and deformity of the feet in the form of foot drop. It can be classified according to the pattern of transmission (autosomal dominant, autosomal recessive, or X linked), according to electrophysiological findings (demyelinating or axonal), or according to the causative mutant gene. The classification of CMT is complex and undergoes constant revision as new genes and mutations are discovered. In this paper, we review the most efficient diagnostic algorithms for the molecular diagnosis of CMT, which are based on clinical and electrophysiological data.
MeSH term(s)	Animals ; Charcot-Marie-Tooth Disease/classification ; Charcot-Marie-Tooth Disease/diagnosis ; Charcot-Marie-Tooth Disease/epidemiology ; Charcot-Marie-Tooth Disease/genetics ; Chromosome Mapping ; Electrophysiology/methods ; Gene Expression Profiling ; Humans ; Mice ; Nervous System Diseases/diagnosis ; Peripheral Nerves/pathology ; Prevalence
Language	English
Publishing date	2009-10-08
Publishing country	United States
Document type	Journal Article ; Review
ZDB-ID	2052552-7
ISSN	1110-7251 ; 1110-7243
ISSN (online)	1110-7251
ISSN	1110-7243
DOI	10.1155/2009/985415
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Article ; Online: New subtype of spinocerebellar ataxia with altered vertical eye movements mapping to chromosome 1p32.

Serrano-Munuera, Carmen / Corral-Juan, Marc / Stevanin, Giovanni / San Nicolás, Hector / Roig, Carles / Corral, Jordi / Campos, Berta / de Jorge, Laura / Morcillo-Suárez, Carlos / Navarro, Arcadi / Forlani, Sylvie / Durr, Alexandra / Kulisevsky, Jaime / Brice, Alexis / Sánchez, Ivelisse / Volpini, Victor / Matilla-Dueñas, Antoni

JAMA neurology

2013 Volume 70, Issue 6, Page(s) 764–771

Abstract: Importance: To provide clinical and genetic diagnoses for patients' conditions, it is important to identify and characterize the different subtypes of spinocerebellar ataxia (SCA).: Objective: To clinically and genetically characterize a Spanish ... ...

Abstract	Importance: To provide clinical and genetic diagnoses for patients' conditions, it is important to identify and characterize the different subtypes of spinocerebellar ataxia (SCA). Objective: To clinically and genetically characterize a Spanish kindred with pure SCA presenting with altered vertical eye movements. DESIGN Family study of ambulatory patients. Electro-oculographic and genetics studies were performed in 2 referral university centers. Setting: Primary care institutional center in Spain. Participants: Thirty-six participants from a large Spanish kindred were clinically examined, and 33 family members were genetically examined. Detailed clinical data were obtained from 9 affected relatives. Two ataxic siblings and 2 asymptomatic family members were examined using an enhanced clinical protocol for a follow-up period of 7 years. Main outcomes and measures: High-density genome-wide single-nucleotide polymorphism arrays, along with microsatellite analysis, and genetic linkage studies were performed. Whole-exome sequencing was used for 2 affected relatives. For most patients, the initial symptoms included falls, dysarthria, or clumsiness followed by a complete cerebellar syndrome. For all 9 affected relatives, we observed altered vertical eye movements, as initial ocular signs for 3 of them and for the 2 asymptomatic family members, all having inherited the risk haplotype. Neuroimaging showed isolated cerebellar atrophy. Results: Initial genome-wide linkage analysis revealed suggestive linkage to chromosome 1p32. Multipoint analysis and haplotype reconstruction further traced this SCA locus to a 0.66-cM interval flanked by D1S200 and D1S2742 (z(max) = 6.539; P < .0001). The causative mutation was unidentified by exome sequencing. Conclusions and relevance: We report a new subtype of SCA presenting in patients as slow progressing ataxia with altered vertical eye movements linked to a 11-megabase interval on 1p32. The Human Genome Nomenclature Committee has assigned this subtype of ataxia the designation SCA37.
MeSH term(s)	Adult ; Chromosome Mapping/methods ; Chromosomes, Human, Pair 1/genetics ; Eye Movements/genetics ; Female ; Follow-Up Studies ; Humans ; Male ; Middle Aged ; Ocular Motility Disorders/classification ; Ocular Motility Disorders/diagnosis ; Ocular Motility Disorders/genetics ; Pedigree ; Polymorphism, Single Nucleotide/genetics ; Spinocerebellar Ataxias/classification ; Spinocerebellar Ataxias/diagnosis ; Spinocerebellar Ataxias/genetics
Language	English
Publishing date	2013-06
Publishing country	United States
Document type	Case Reports ; Journal Article ; Multicenter Study ; Research Support, Non-U.S. Gov't
ZDB-ID	2702023-X
ISSN	2168-6157 ; 2168-6149
ISSN (online)	2168-6157
ISSN	2168-6149
DOI	10.1001/jamaneurol.2013.2311
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Article ; Online: The metabotropic glutamate receptor 1, GRM1: evaluation as a candidate gene for inherited forms of cerebellar ataxia.

Rossi, Pia Irene Anna / Vaccari, Carlotta Maria / Terracciano, Alessandra / Doria-Lamba, Laura / Facchinetti, Sabrina / Priolo, Manuela / Ayuso, Carmen / De Jorge, Laura / Gimelli, Stefania / Santorelli, Filippo Maria / Ravazzolo, Roberto / Puliti, Aldamaria

Journal of neurology

2009 Volume 257, Issue 4, Page(s) 598–602

Abstract: The metabotropic glutamate (mGlu) 1 receptor, coded by the GRM1 gene, is involved in synaptic activities, learning and neuroprotection. Eleven different mouse Grm1 mutations, either induced or spontaneously occurring, have been reported, including one ... ...

Abstract	The metabotropic glutamate (mGlu) 1 receptor, coded by the GRM1 gene, is involved in synaptic activities, learning and neuroprotection. Eleven different mouse Grm1 mutations, either induced or spontaneously occurring, have been reported, including one from our group. All the mutations result in a complex phenotype with ataxia and intention tremor in mice. Moreover, autoantibodies against mGlu1 receptor have been associated with paraneoplastic cerebellar ataxia in humans. In spite of the large clinical and genetic heterogeneity displayed by the inherited forms of cerebellar ataxia, forms remain with a yet unknown molecular definition. With the evidence coming out from mouse models and from paraneoplastic ataxia, it seems that GRM1 represents a good candidate gene for early-onset ataxia forms, though no GRM1 mutations have thus far been looked for. The aim of this study was to investigate the possible involvement of GRM1 in early-onset or familial forms of ataxia. We searched for gene mutations in a panel of patients with early-onset ataxia as yet molecularly undefined. No causative mutations were found, though we detected synonymous variants in the exons and changes in flanking intronic sequences which are unlikely to alter correct splicing upon bioinformatics prediction. As for other known forms of inherited ataxias, absence of mutations in GRM1 seems to suggest a relatively low frequency in cerebellar ataxias.
MeSH term(s)	Adolescent ; Age of Onset ; Cerebellar Ataxia/genetics ; Cerebellar Ataxia/physiopathology ; Child ; DNA Mutational Analysis/methods ; Europe ; Female ; Humans ; Male ; Mutation/genetics ; Receptors, Metabotropic Glutamate/genetics ; Young Adult
Chemical Substances	Receptors, Metabotropic Glutamate ; metabotropic glutamate receptor type 1
Language	English
Publishing date	2009-11-19
Publishing country	Germany
Document type	Journal Article ; Multicenter Study ; Research Support, Non-U.S. Gov't
ZDB-ID	187050-6
ISSN	1432-1459 ; 0340-5354 ; 0012-1037 ; 0939-1517 ; 1619-800X
ISSN (online)	1432-1459
ISSN	0340-5354 ; 0012-1037 ; 0939-1517 ; 1619-800X
DOI	10.1007/s00415-009-5380-3
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Article ; Online: Managing Clinical Trials for Alzheimer's Disease During the COVID-19 Crisis: Experience at Fundació ACE in Barcelona, Spain.

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Article ; Online: A novel small deletion in PMP22 causes a mild hereditary neuropathy with liability to pressure palsies phenotype.

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Article ; Online: Heterozygous

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Article: Managing Clinical Trials for Alzheimer's Disease During the COVID-19 Crisis: Experience at Fundació ACE in Barcelona, Spain

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Article ; Online: Diagnosis of Charcot-Marie-Tooth disease.

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Article ; Online: New subtype of spinocerebellar ataxia with altered vertical eye movements mapping to chromosome 1p32.

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Article ; Online: The metabotropic glutamate receptor 1, GRM1: evaluation as a candidate gene for inherited forms of cerebellar ataxia.

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