Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0028738 (nystagmus)
 7,431 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In 8 patients with manifest Huntington's Chorea vestibulo-ocular (VOR) and cervico-ocular (COR) reflexes were compared with eye movements during active head turnings. Seated patients were stimulated with their eyes closed by sinusoidal swings around the vertical axis at frequencies of 0.05, 0.1 and 0.2s-1 with amplitudes of 20, 40 and 60 degrees. 1) With all stimuli and in all patients a weak nystagmus was elicited in the direction of head movements, superimposed on larger slow eye deviations. 2) The averaged total saccadic amplitudes were smaller than in normals, increased with stimulus amplitudes and were smallest for COR, followed by VOR and active head movements. 3) The gain (peak velocity of slow phase of nystagmus to peak stimulus velocity) was only slightly below norm values and decreased with increasing stimulus frequency and amplitude. 4) The peak amplitudes of average slow eye deviations increased with stimulus amplitudes. In VOR they were comparable to norm values but were below them during COR and active head movements. 5) In normal subjects these slow eye deviations were compensatory to head movements in VOR but anticompensatory in COR and during active head movements. In choreic patients during COR and more often during active head movements these slow eye movements were compensatory for the head turning.
 ...
PMID:The effect of cervical and vestibular reflexes on eye movements in Huntington's chorea. 621 Nov 58

We studied eye movements in 50 patients with Huntington's disease. Fixation was impaired in 73% of patients; such individuals had difficulty in suppressing saccades toward novel visual stimuli. Impaired initiation of saccades was manifest by increased reaction time (89%) and inability to make a saccade without head movement (89%) or blink (35%). Saccades and quick phases of nystagmus were slowed in 62%. Smooth pursuit was abnormal in 60%, and vergence in 33%. The vestibulo-ocular reflex and the ability to hold eccentric gaze were preserved even late in the disease.
 ...
PMID:Abnormal ocular motor control in Huntington's disease. 622 33

Eye movements were investigated in 14 patients with manifest Huntington's Chorea, 10 offspring and 10 normal subjects with electronystagmography (ENG) and during REM sleep. In choretic patients the following abnormalities were found: 1. Voluntary saccades were slowed in 10 of 14 patients and were more disturbed in the vertical than the horizontal direction. 2. Also, the velocity of the fast phase of optokinetic nystagmus was clearly reduced, especially in the vertical plane. 3. Horizontal, pendular pursuit movements are often superimposed by square wave opposite jerks. 4. Vestibular nystagmus was disturbed, too, especially in the fast phase. 5. During paradoxical sleep, rapid eye movements are less frequent. 6. In ten offspring, eight showed similar oculomotor disturbances.
 ...
PMID:Disturbance of eye movements in Huntington's chorea. 645 5

Fetal brain grafting has been used successfully in the restoration of striatal function in rat and non human primate models of Huntington's disease (HD). This is a report of the first clinical trial of this procedure applied to a 37 year old Mexican female with moderate to severe HD of 9 years evolution. The two striata from a 13 week-old human fetus were homotopically transplanted to 4 cavities in the ventricular wall of the right caudate nucleus. The months after surgery, her neurologic and neuropsychologic evaluations revealed the stabilization of many of her signs and most neuropsychologic parameters, a moderate improvement of her choreic movements, predominantly in the face, of her ability to define and express ideas in oral and written form, and of her articulatory agility, as well as of some activities of her daily life and social behavior. There was a slight deterioration of her gait and posture. Her saccadic system and optokinetic nystagmus, and her visuospatial and visuoperceptual functions were deteriorated.
 ...
PMID:[The first homotopic fetal homograft of the striatum in the treatment of Huntington's disease]. 792 91

Autosomal dominant hereditary spastic paraplegia (HSP) is genetically classified into three types, all of which are characterized by insidiously progressive spasticity of the lower extremities. Patients with a complicated form of autosomal recessive HSP associated with hypoplasia of the corpus callosum have been reported by Iwabuchi et al. Here we report a 64-year-old patient with a pure form of autosomal dominant HSP with thinning of the corpus callosum. He had been well until 12 years of age, when spasticity and weakness of the lower extremities began to develop. His symptoms gradually worsened and he had difficulty in walking at the age of 44. When he was 56 years old, he visited our hospital. Eleven family members over five generations have been affected, and anticipation, i.e., an apparent decrease in age of onset, has been observed. On admission, he had mild cataracts, equinovarus and pes cavus, and neurological examination revealed spastic paraplegia. However, the intelligence test was normal, and nystagmus, ataxia of the extremities, involuntary movement, orthostatic hypotension or urinary disturbance was not observed. Trinucleotide repeat diseases, such as Huntington's disease, spinocerebellar ataxia type 1, spinocerebellar ataxia type 2, Machado-Joseph disease and dentatorubral-pallidoluysian atrophy, were excluded by DNA analysis. Brain MRI at the age of 64 revealed marked thinning of the corpus callosum. We considered this patient had a pure form of HSP. However, thinning of the corpus callosum has never been reported in autosomal dominant HSP.
 ...
PMID:[A case of autosomal dominant, pure form spastic paraplegia with thinning of the corpus callosum]. 980 90

We compared oculomotor control among individuals in the early stages of Huntington's disease (HD), with that of individuals who are presymptomatic HD gene carriers (PSGC) and nongene carriers (NGC). The oculomotor testing paradigm included both traditional tests and a novel experimental procedure to assess visual scanning. Traditional tests elicited saccades, pursuit and optokinetic nystagmus (OKN). HD patients demonstrated marked delay in the initiation of volitional saccades (anti-saccade and memory-guided saccades), a reduced number of correct volitional saccades, reduced velocity of saccades, and a decreased OKN gain. We also studied visual scanning while the participants completed the Digit Symbol Subscale of the Wechsler Adult Intelligence Survey-Revised (WAIS-R). The HD participants demonstrated an abnormal gaze strategy, which may be associated with attention and/or planning deficits. Differences between the PSGC and NGC groups were only observed for two measures: PSGC had a decreased number of memory-guided saccades and a subtle delay in the initiation of volitional saccades. Our results suggest that oculomotor measures are a sensitive biomarker in the early stage of HD and demonstrate that the combination of more traditional oculomotor tests with visual scanning tests is useful in the evaluation of visual performance.
 ...
PMID:Oculomotor control in asymptomatic and recently diagnosed individuals with the genetic marker for Huntington's disease. 1535 67

SCA17 is a rare type of autosomal dominant spinocerebellar ataxia caused by a CAG/CAA expansion in the gene encoding the TATA-binding protein (TBP). We screened for triplet expansion in the TBP gene 110 subjects with progressive cerebellar ataxia and 94 subjects with Huntington-like phenotype negative at specific molecular tests. SCA17 mutation-positive subjects were found in both groups of patients. Expanded alleles with > or = 44 CAG/CAA repeats were identified in 11 individuals and in 4 non-symptomatic relatives. Eleven de novo diagnosed patients and four patients previously reported underwent extensive clinical, neuroradiological and oculographic examination. Cerebellar signs and symptoms were present in all cases; 80% of the patients had mild to severe cognitive deficits; 66% of patients showed choreic movements; pyramidal signs, bradykinesia and dystonia were observed in approx 50% of the cases. MRI demonstrated cortical and cerebellar atrophy in all patients, whereas neurophysiological examination excluded signs of peripheral nervous system involvement. Oculographic examinations were performed in 9 out of 15 patients and showed a distinct pattern of oculomotor abnormalities, characterized by impairment of smooth pursuit, defects in the saccade accuracy, normal saccade velocity, hyperreflexia of vestibuloocular reflexes, and absence of nystagmus. In summary, this study presents one of the largest series of SCA17 patients in Europe. In our group of patients, SCA17 represents the third most frequent SCA genotype. Our clinical data confirm the large variability in SCA17 phenotypic presentation, and indicate that a peculiar combination of neuroradiological, electrophysiological and oculomotor findings is recognizable in SCA17.
 ...
PMID:Spinocerebellar ataxia type 17 (SCA17): oculomotor phenotype and clinical characterization of 15 Italian patients. 1793 76