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Biomedical subjects

P J García Ruiz

Publications and source records attributed to P J García Ruiz.

At least 19 recordsLinked to original sources
PubMed2004

[Freezing of gait or freezing of quadruped gait].

Parkinson's disease (PD) is frequently associated with freezing of gait. Patients with advanced PD learn to use tricks to relieve freezing of gait. Recently one of our patients informed us that he could overcome freezing of gait by crawling. Since crawling is a sort of quadruped gait that humans develop transiently, we wondered whether quadruped gait is preserved in PD. We recruited 16 patients with PD who had frequent and disabling freezing of gait. Under experimental conditions, after 12 hours without medication, seven patients developed biped freezing of gait. Of these seven patients, only two patients (the patients with the most severe freezing) also developed quadruped freezing of gait. This experiment suggests that bipedal gait is affected early in PD, while quadruped gait is preserved until late in this disease.

Aged↗
PubMed2004

[Prehistory of Parkinson's disease].

Parkinson's disease (PD) was described according to conventional history in 1817. However, PD has been known and partially described since the Biblical times. There are descriptions of parkinsonian symptoms in Indian and Egyptian texts. Galen also paid attention to rest tremor. Parkinsonian symptoms were also mentioned by several authors since the XVII century including Tulp, Silvio de la Boe, Johannes Baptiste Sagar, Gaubius, Boissier de Sauvages, Hunter and Chomel. Certainly James Parkinson deserves to be recalled after his text devoted to shaking palsy, but he also recognized he contribution of previous authors.

History, 17th Century↗
PubMed2003

[Primary focal dystonia: descriptive study of 205 patients].

OBJECTIVES: To describe the clinical and epidemiologic aspects of different types of focal dystonia. PATIENTS AND METHODS: A total of 205 patients with primary focal dystonia were studied retrospectively and the following variables were analyzed: gender, age of onset, age at examination, evolution time, history of trauma, association with other movement disorders, fluctuations of dystonic symptoms as well as a family history of dystonia, Parkinson's disease, tremor, and lefthandedness or stuttering. We compared these variables among the different clinical categories of focal dystonia. RESULTS: Those patients with cranial and laryngeal dystonia were significantly older at the onset of symptoms compared with patients with writer's cramp. Males were more prevalent than females in all categories of focal dystonia except for cranial dystonia. Prior history of trauma and association with tremor were more frequent in patients with cervical dystonia than in those with others dystonic categories. Most patients with cranial, cervical and laryngeal dystonia had fluctuations in the intensity of dystonic symptoms, unlike the patients with writer's cramp. CONCLUSIONS: There is a caudo-cranial gradient in age of onset and the age of onset increases as the cranial presentation becomes greater. Females are more prevalent in cranial dystonia and there is a preponderance of males in the dystonias with a lower location. The dystonias with cranial distribution frequently present fluctuations of symptoms during the day. Association with other movement disorders, such as tremor, and prior history of trauma, is common in patients with cervical dystonia.

Adolescent↗
PubMed2002

[Short history of L-Dopa].

The introduction of L-Dopa has been a landmark in Neuroscience. Before the use of L-Dopa, Parkinson's disease (PD) was considered a disabling disease with no effective treatment. The development of L-Dopa followed a rationale approach: first, the discovery of dopamine deficiency in the striatum of patients with PD; and then the use of precursor of dopamine. Overall, the whole process took less than 12 years; this is a remarkable short time taking into account that the development of a similar crucial drug such as insulin took 50 years. In addition, the success of L-Dopa stimulated the neurochemistry research for all neurodegenerative diseases.

Antiparkinson Agents↗
PubMed2001

[Speed of ocular saccades in Huntington disease. Prospective study].

BACKGROUND: Oculomotor abnormalities, especially slow saccades, have long been recognized in Huntington's disease (HD). OBJECTIVES AND METHODS: To study prospectively horizontal saccade velocity by videonystagmography in 21 patients with genetically confirmed HD. The study included a baseline analysis and a second evaluation after 18.8 +/- 7.1 months. We included a control group of 15 subjects. RESULTS: HD group exhibited decreased saccade velocity when compared with that from a control group (for predictive and unpredictive target). HD patients showed decreased saccade velocity with the passage of time (for predictive target, p < 0.01). Finally we found statistical significant correlation between saccade velocity and triplet length. CONCLUSIONS: The measurement of saccade velocity might be an objective method to study the natural evolution of HD, and thus evaluate the effectiveness of future therapies.

Adult↗
PubMed2000

Recommendations for the use of botulinum toxin type A in the management of cerebral palsy.

Botulinum toxin type A (BTX-A) is increasingly being used for the treatment of childhood spasticity, particularly cerebral palsy. However, until very recently, all such use in this indication has been unapproved with no generally accepted treatment protocols, resulting in considerable uncertainty and variation in its use as a therapeutic agent. In view of the increasing awareness of, and interest in, this approach to the treatment of spasticity, and also the recent licensing in a number of countries of a BTX-A preparation for treating equinus deformity in children, it would seem timely to establish a framework of guidelines for the safe and efficacious use of BTX-A for treating spasticity in children. This paper represents an attempt, by a group of 15 experienced clinicians and scientists from a variety of disciplines, to arrive at a consensus and produce detailed recommendations as to appropriate patient selection and assessment, dosage, injection technique and outcome measurement. The importance of adjunctive physiotherapy, orthoses and casting is also stressed.

Animals↗
PubMed2000

Progressive response to botulinum A toxin in cerebral palsy.

Botulinum A toxin (BT) has been successfully used for the management of spasticity in cerebral palsy (CP). However, the long-term results of BT have not yet been determined. We have studied the evolution of a homogeneous group of patients with CP treated with BT. All these patients had an equinus gait resulting from calf muscle spasticity without other muscle group involvement. All of these patients were treated with the same total dose (4 microg/kg) at the same time interval (three months). The mean follow-up time was 33 months. Gait evaluation was made blind on videotape recordings by two independent physicians according to five point scale. All our patients exhibited a progressive improvement in their gait pattern. None of our patients developed fixed contractures nor did any of them need surgical correction. No significant side-effects were seen. The response observed in our study could be due to a progressive symptomatic effect of BT, but it might be also explained by a change in the natural history of the spasticity related to CP, at least in this selected group of patients.

Botulinum Toxins, Type A↗
PubMed1998

Severity of cognitive impairment in juvenile and late-onset Huntington disease.

OBJECTIVES: To compare the severity of cognitive impairment among groups of patients with different age ranges at the onset of Huntington disease (HD) and to evaluate the variable influence of motor and cognitive deficits on functional disability across different ages at the onset of HD. DESIGN: Cross-sectional multidisciplinary evaluation of patients referred to our institution for care related to a possible diagnosis of HD. SETTING: The Huntington disease program in the Departments of Neurology and Genetics at the Fundación Jimenez Diaz, Madrid, Spain. PARTICIPANTS: Seventy-one patients with Huntington disease were classified into 3 groups depending on age at onset of motor symptoms: juvenile onset, 25 years of age or younger (group 1, n = 15); adult onset, from 26 to 50 years (group 2, n = 43); and late onset, 51 years or older (group 3, n = 13). Age- and education-matched controls (n=50) were included to compare cognitive performance with patients in groups 1 and 3. MEASURES: Cognitive evaluation encompassed a wide neuropsychological battery to assess global cognitive functioning and visuospatial, prefrontal, and memory functions. Clinical data included motor and functional variables measured by using the Unified Huntington's Disease Rating Scale. Genetic analysis determined the number of CAG trinucleotide repeats. RESULTS: Patients in group 1 scored 2.9 points and patients in group 3 scored 4.2 points below their respective controls on the Mini-Mental State Examination. Patients in groups 1 and 3 were similarly impaired in verbal memory. Visual function was much more impaired in patients in group 3, and prefrontal functions were slightly worse in patients in group 1. Cognitive scores were correlated only with time of evolution for patients in group 2. Functional scores were not significantly different among the 3 groups, but 11 (85%) of the patients in group 3 were in stage I or II vs 10 (67%) of the patients in group 1. Total functional capacity correlated better with the Mini-Mental State Examination score for patients in group 3 and with motor deficits (akinesia) and prefrontal dysfunction for patients in group 1. The mean+/-SD CAG repeat length decreased from 59.9+/-12.6 for patients in group 1 to 46.2+/-3.5 for patients in group 2 and 41.7+/-2.6 for patients in group 3. Longer CAG repeats in the HD study population correlated with akinetic features but not with cognitive performance. CONCLUSIONS: Despite the much greater genetic defect, cognitive status is slightly better preserved in patients with juvenile-onset HD. Cognitive impairment in patients with juvenile- and late-onset HD differs in the severity of visual and prefrontal deficits. Functional disability in patients with late-onset HD depends more on global cognitive status, while in patients with juvenile-onset HD, it is conditioned more by motor deficits and prefrontal dysfunction.

Adolescent↗
PubMed1998

[Adduction spastic dysphonia: clinical and treatment].

Adduction spastic dystonia (SD) is currently considered a focal dystonia involving laryngeal muscles. SD is one of the most poorly known focal dystonias. We reviewed our experience with twentynine patients with adduction SD and compared the clinical and epidemiologic variables with the other focal dystonias studied at our institution in the last five years (132 patients). Mean age of patients (47.2 +/- 13 years), sex, clinical course in years (5.7 +/- 5) and presence of circadian fluctuations did not differ significantly from those observed in patients with other focal dystonias. Likewise, there were no significant differences regarding the presence of a family history of dystonia, essential tremor, or stuttering. Our results confirm the similarity of the clinical and epidemiologic data of SD with the other focal dystonias. All patients with SD were treated with a local injection of botulinum toxin. A total of 108 treatments were performed, 41 with a visually guided transoral technique and 67 with a percutaneous technique. The transoral technique was effective in all cases (41/41) but not all treatments with the percutaneous technique were effective (53/67). Three patients required the shift to the transoral procedure to achieve enough symptomatic alleviation.

Adult↗
PubMed1997

Senile chorea: a multicenter prospective study.

Senile chorea (SC) is characterized by the presence of late onset, generalized chorea with no family history and no dementia. It is unclear whether it is a distinct clinical entity or represents late onset Huntington's disease (HD) with an undetected family history. In order to clarify this issue, we carried out a prospective, multicenter study of suspected cases of SC. Since 1994 we identified six cases that met clinical criteria for SC. Their study included routine lab tests, cerebral MRI, neuropsychological assessment, and lastly gene IT15 analysis. An abnormal expansion of the (CAG)n repeat was found in three patients. Although there were no criteria for dementia, most neuropsychological tests revealed mild to moderate deficits, particularly in visuospatial and prefrontal tasks, m all six patients, those that were finally diagnosed as having late onset "sporadic" HD, but also in patients that finally had SC. This study provides further evidence on the existence of SC; however, the distinction from late onset "sporadic" HD seems not to be possible on clinical grounds unless a genetic study is carried out. Some cases of suspected "SC" have late onset "sporadic" HD.

Age of Onset↗
PubMed1996

Visual processing disorders in patients with Huntington's disease and asymptomatic carriers.

Deficits in visual processing are early cognitive abnormalities in patients with Huntington's disease (HD) and may be found in presymptomatic gene carriers. We investigated the nature and evolution of deficits in visual processing in HD, and whether subtle deficits could be recognized by formal testing in asymptomatic carriers. We studied 35 patients with HD in stages 1-3 of functional disability, and 26 symptom-free relatives at 50% risk for the disease. We administered the Mini Mental State Examination to assess overall cognitive function and tests to assess visuospatial skills such as visual attention and ocular scanning (Cancellation Task and Line Bisection Test), visuoconstructive abilities (Copy of Rey's Complex Figure), and visuoperception (Hooper Visual Organization Test). The group at risk comprised 15 asymptomatic carriers (AC) and 11 non-carriers (NC) and was assessed by investigators blinded to gene status. HD patients were impaired in most of the tasks compared with AC and NC, and the scores declined steadily from stage 1 to 3. However, the difference between patients in stage 1 of HD and AC and NC in most of the tasks was not significant. Only the Hooper Test, which requires complex visual integration, was highly discriminative of early symptomatic from asymptomatic carriers (P < 0.05). There were no significant differences between AC and NC in any of the tasks. We conclude deficits in visual processing develop with other manifestations of the disease and are not significant on formal testing at presymptomatic stages; also, early visual deficits in HD seem to be related to disorders in complex visual processing.

Adolescent↗