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PubMed1993

The neurologic syndrome of severe Alzheimer's disease. Relationship to functional decline.

OBJECTIVE: To assess the possible association between functional decline and noncognitive neurologic signs in the severe stages of Alzheimer's disease (AD). DESIGN: Case series. SETTING: Subjects from a dementia research referral center, longitudinally followed, when necessary, into residential home and nursing home settings. PATIENTS: A consecutive sample of 56 patients (16 men, 40 women; mean age, 74.6 years) with a clinical diagnosis of probable AD in the moderately severe and severe stages. MAIN OUTCOME MEASURE: For global dementia severity, the Global Deterioration Scale and Mini-Mental State examination; for functional assessment, the Functional Assessment Staging Scale; and for assessment of neurologic function, nine release signs (primitive reflexes), 10 measures of extrapyramidal function, and five measures of pyramidal function, including deep-tendon reflexes and plantar signs. Changes in activity or presence of neurologic signs were rated on a seven-point scale. Results were analyzed in terms of prevalence and magnitude of change in relation to functional impairment. RESULTS: Prevalence and mean scores of certain release signs, certain extrapyramidal measures commonly referred to as bradykinesia, and certain pyramidal signs showed significant associations with the magnitude of functional impairment. Other neurologic measures, for example, the palmomental reflex, and certain extrapyramidal measures commonly seen in Parkinson's disease, including the glabellar blink reflex, cogwheeling, tremor, shuffling gait, and festination, did not show significant increments with continuing functional decline in AD. CONCLUSIONS: Functional decline in the advanced stages of AD appears to be associated with a particular combination of progressive cortical, extrapyramidal, and pyramidal system dysfunction. The characteristics of this neurologic syndrome of the severe stages of AD differ from those of other neurologic disorders. For example, the pattern of extrapyramidal system disease is different from that seen in Parkinson's disease. The neurologic syndrome of the severe stages of AD is amenable to description and deserves further investigation.

Aged↗
PubMed1995

Molecular genetic reevaluation of the Dutch hyperekplexia family.

OBJECTIVES: To confirm linkage of the locus of the major form of hyperekplexia to markers on chromosome 5q, to screen for a point mutation in the gene encoding the alpha 1 subunit of the glycine receptor, and to investigate whether the putative "minor" form of hyperkeplexia consisting of an excessive startle response without stiffness, is based on the same genetic defect as the major form. DESIGN: A survey of various symptoms of hyperekplexia was performed in the Dutch pedigree. Linkage studies were performed for these symptoms. SETTING: Subjects were visited at home, and the genetic study was performed at University Hospital Leiden, (the Netherlands). PATIENTS: A history was taken from 76 subjects in the pedigree, and neurologic examinations were performed on 61 subjects from four generations of the pedigree. MAIN OUTCOME MEASURES: The main outcome measures were lod scores for markers on chromosome 5q for the major and minor forms of hyperekplexia and periodic leg movements during sleep. Mutations in the alpha 1 subunit of the glycine receptor were detected by screening the exons with denaturing gradient gel electrophoresis. RESULTS: Exaggerated startle responses were reported in 44 patients. The major form consisted of stiffness in addition to the excessive startle reaction and occurred in 28 subjects. Sixteen of 44 subjects had startle responses without stiffness, indicating the minor form. Linkage was found between markers CSF1-R, D5S209, and D5S119 and the disease locus for the major form, but not for the minor form. The alpha 1 subunit of the glycine receptor showed a G to A transition mutation in codon 271 for the major form, but not for the minor form. CONCLUSIONS: Linkage and an abnormal glycine receptor were found only in the major form of hyperekplexia. Recognition of a major form is based on additional stiffness. This is therefore the most important diagnostic symptom. The minor form is not a different expression of the same genetic defect and may represent a normal but pronounced startle response.

Genetic Linkage↗
PubMed1981

Hereditary stiff-baby syndrome.

Clinical and electrophysiologic features of an infant with stiff-baby syndrome were studied; his father, uncle, and paternal grandmother suffered from a similar disorder. They all had a similar facial appearance during infancy (an alert, frightened, tense look) and a tendency to vomit because of hiatal hernias. The condition is benign but causes anxiety and, later, embarrassment as affected adults suddenly fall when stumbling or startled. We suggest that the condition be called hereditary stiff-baby syndrome. The family history is suggestive of autosomal dominant inheritance.

Adult↗
PubMed1999

Hyperekplexia phenotype due to compound heterozygosity for GLRA1 gene mutations.

Hyperekplexia (MIM 149400), or startle disease, is a neurological disorder characterized by generalized stiffness during the neonatal period, excessive startle reflexes, and generalized stiffness related to the startle response. Linkage analysis mapped a major gene for this disorder to chromosome 5q33-35. Subsequently, mutations in the GLRA1 gene, encoding the alpha1 subunit of the glycine receptor, were found in hyperekplexia families with an autosomal dominant or recessive inheritance pattern. In the present study, we describe the genetic analysis of the GLRA1 gene of a family consisting of 2 children with hyperekplexia, 2 nonaffected children, and their healthy nonconsanguineous parents. Although the pedigree suggested the presence of a recessive mutation, haplotype construction showed that the 2 affected children shared the same haplotype combination in which the maternal haplotype differed from the paternal haplotype, suggesting the presence of compound heterozygosity. Mutation analysis revealed different missense mutations on the two haplotypes, changing an arginine to a histidine at amino acid positions 252 and 392, respectively. It is interesting that the hyperekplexia phenotype was only seen in individuals compound heterozygous for the two mutations, whereas family members carrying either one of the two mutations had no clinical signs.

Chromosome Mapping↗
PubMed2000

"On" freezing in Parkinson's disease: resistance to visual cue walking devices.

OBJECTIVE: To measure "on" freezing during unassisted walking (UW) and test if two devices, a modified inverted stick (MIS) and a visual laser beam stick (LBS) improved walking speed and number of "on" freezing episodes in patients with Parkinson's disease (PD). BACKGROUND: Multiple visual cues can overcome "off' freezing episodes and can be useful in improving gait function in parkinsonian patients. These devices have not been specifically tested in "on" freezing, which is unresponsive to pharmacologic manipulations. METHODS: Patients with PD, motor fluctuations and freezing while "on," attempted walking on a 60-ft track with each of three walking conditions in a randomized order: UW, MIS, and LBS. Total time to complete a trial, number of freezes, and the ratio of walking time to the number of freezes were compared using Friedman's test. RESULTS: Twenty-eight patients with PD, mean age 67.81 years (standard deviation [SD] 7.54), mean disease duration 13.04 years (SD 7.49), and mean motor Unified Parkinson's Disease Rating Scale score "on" 32.59 (SD 10.93), participated in the study. There was a statistically significant correlation of time needed to complete a trial and number of freezes for all three conditions (Spearman correlations: UW 0.973, LBS 0.0.930, and MIS 0.842). The median number of freezes, median time to walk in each condition, and median walking time per freeze were not significantly different in pairwise comparisons of the three conditions (Friedman's test). Of the 28 subjects, six showed improvement with the MIS and six with the LBS in at least one outcome measure. CONCLUSION: Assisting devices, specifically based on visual cues, are not consistently beneficial in overcoming "on" freezing in most patients with PD. Because this is an otherwise untreatable clinical problem and because occasional subjects do respond, cautious trials of such devices under the supervision of a health professional should be conducted to identify those patients who might benefit from their long-term use.

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PubMed1980

Congenital stiff-man syndrome.

A second large family with a dominantly inherited benign disorder resembling the stiff-man syndrome is reported. The infants are markedly hypertonic at birth, but their tone becomes almost normal by 3 years of age. Stiffness reappears at adolescence, often precipitated by sudden movement or cold, but remains mild when compared with the sporadic disorder.

Electromyography↗
PubMed1992

Startle disease, or hyperekplexia: response to clonazepam and assignment of the gene (STHE) to chromosome 5q by linkage analysis.

Familial startle disease (also known as hyperekplexia and congenital "stiff-man" syndrome) is an autosomal dominant disorder characterized by an exaggerated startle reaction of sudden, unexpected auditory or tactile stimuli; affected neonates also have severe and occasionally fatal hypertonia. We recently encountered a large, five-generation family with startle disease, and treated 16 patients (including 1 neonate) with clonazepam; all experienced dramatic and sustained improvement. We performed systematic linkage analysis in this family, and found tight linkage between the disease locus and a polymorphic genetic marker locus (colony-stimulating factor receptor, or CSF1R) that has been physically mapped to chromosome 5q33-q35. The maximum odds ratio favoring linkage over nonlinkage is greater than 10,000,000:1 (lod score, 7.10) at 3% recombination. Several genes encoding neurotransmitter receptor components have been physically mapped to the subtelomeric region of chromosome 5q, and are thus candidates for the startle disease gene. The availability of additional large pedigrees with startle disease should facilitate identification and characterization of the gene for this disorder.

Adult↗
PubMed1995

Mutational analysis of familial and sporadic hyperekplexia.

Hyperekplexia is a rare, autosomal dominant neurological disorder characterized by hypertonia, especially in infancy, and by an exaggerated startle response. This disorder is caused by mutations in the alpha 1 subunit of the inhibitory glycine receptor (GLRA1). We previously reported two GLRA1 point mutations detected in 4 unrelated hyperekplexia families; both mutations were at nucleotide 1192 and resulted in the replacement of Arg271 by a glutamine (R271Q) in one case and a leucine (R271L) in the other. Here, 5 additional hyperekplexia families are shown to have the most common G-to-A transition mutation at nucleotide 1192. Haplotype analysis using polymorphisms within and close to the GLRA1 locus suggests that this mutation has arisen at least twice (and possibly four times). In 2 additional families, a third mutation is also presented that changes a tyrosine at amino acid 279 to a cysteine (Y279C). Five patients with atypical clinical features and equivocal or absent family history of hyperekplexia and 1 patient with a classical presentation but not family history are presented in whom a mutation in the GLRA1 gene was not detected. Thus, only clinically typical hyperekplexia appears to be consistently associated with GLRA1 mutations, and these affect a specific extracellular domain of the protein.

Base Sequence↗
PubMed2002

Surgery of the motor thalamus: problems with the present nomenclatures.

The literature on thalamic surgery is difficult to read because different nomenclatures are in use. Neurosurgeons mostly use the stereotactic atlas of Schaltenbrand with Hassler's nomenclature of the thalamus. Neuroanatomists use different nomenclatures for the primate thalamus. The cytoarchitectonic definition of nuclei is difficult in the motor thalamus, and it would be best to define the nuclei based on their subcortical afferents. However, tracing studies are not available in humans. Thus, human thalamic nomenclature is based entirely on cytoarchitectonic subdivisions and transfer of knowledge by analogy from monkey to man. Problems arise when trying to transfer the detailed knowledge from monkey to the human brain. By doing so, different authors have come to different conclusions concerning the subcortical afferents of Hassler's motor nuclei, which inevitably leads to confusion when attempting neurophysiological interpretations of the surgical data. The present review draws attention to the discrepancies and open questions in the literature. There is a need to better define the limits of the sensory and cerebellar afferent receiving thalamic nuclei as well as those of the cerebellar and pallidal afferent receiving territories in humans.

Animals↗
PubMed2002

Practice effects in three-dimensional sequential rapid aiming in Parkinson's disease.

One hypothesized role of the basal ganglia, based largely on findings in Parkinson's disease (PD) patients, is the control of movement sequences. We examined changes in performance with practice of a movement sequence in PD patients and age-matched controls (n = 8 per group). Subjects practiced a complex three-dimensional sequential aiming task over 2 days, completing 180 trials, with the goal to minimize response time within specified accuracy limits. The results indicated that both groups became faster in planning the movement, and both groups moved more quickly through the sequence with practice. The PD group's decrease in movement time occurred primarily within the first 45 trials, whereas the control group continued to improve through the first 150 trials. Flight time (time between targets) to a small target decreased with practice in both groups, but flight time to a large target decreased only in the control group. This finding indicates that error corrective processes are more amenable to practice than ballistic processes in people with PD. There was little evidence that either group improved their performance by planning shorter (lower) trajectories, but rather increased mean velocity. Contact time (time on target) decreased with practice in both groups, and there were no group differences. These data indicate that practice can improve performance, both in planning and in specific execution processes.

Aged↗