Pyramidal sign

Coenzyme Q10 (CoQlO) deficiency. This mitochondrial encephalomyopathy has three main clinical presentations. A predominantly myopathic form is characterized by the triad of exercise intolerance, recurrent myoglobinuria, and CNS involvement. A more frequent ataxic form is dominated by ataxia and cerebellar atrophy, variously associated with weakness, developmental delay, seizures, pyramidal signs, and peripheral neuropathy, often simulating spinocerebellar atrophy. A third presentation with fatal infantile encephalomyopathy and renal involvement, has been described in two families. The biochemical defect (or defects) presumably involve different steps in the biosynthesis of CoQlO, but are still unknown, as are the molecular defects. Diagnosis, however, is important because all patients - and especially those with the myopathic and infantile forms - benefit from CoQlO supplementation [13,14]. 

This was the last of the SCAs to be shown to arise from a Q expansion in the mutated protein. Koide et al. (1999) identified a CAG expansion in the transcription factor TATA-binding factor protein TBP gene in a patient with short stature, pyramidal signs, and mental retardation. Since then this extremely rare disease has been identified in a few European and Japanese families (Rolfs et al., 2003). Cerebral... 

The sCJDW2 subtype has a W at PrP codon 129 and type 2 PrP It is the second most common form of sCJD and accounts for 16% of all sporadic human prion disease. The mean age at onset is 60 years and the mean duration of the clinical phase is six months. Ataxia is the most common presenting symptom for this subtype. At later stages, dementia almost always develops and is accompanied by myoclonus and pyramidal signs. PSW on EEG is rare and CSF 14-3-3 is positive in 80% of cases. 

The SCJDMM2 subtype has MM at PrP codon 129 and type 2 PrP , and it accounts for 2-8% of the sporadic cases. The mean age at onset is 65 years and the mean clinical duration is 16 months. Cognitive impairment is the universal presenting symptom and is sometimes accompanied by aphasia. At later stages, myoclonus and pyramidal signs, and sometimes Parkinsonism, apraxia, and seizures, develop. There is no PSW on EEG while CSF 14-3-3 is positive in most cases. 

PIHH syndrome. 238970 Mitochondrial ornithine transporter MisceUaneous Disorders of Amino Acid Metabolism <1 100,000. Mental retardation,. seizures, pyramidal signs, compromised. sense of vibration. . v ... 

Effects on the nervous system tremor, peripheral neuropathy (motor and sensory), paresthesia, ataxia, pyramidal signs, cerebral cortical atrophy, hydrocephalus, convulsions, parkinsonian syndrome, degenerative changes in the nerve cells, personality changes, permanent brain damage. 

In most cases, clinical diagnosis of PD is correct. Nevertheless, misdiagnoses do occur, especially if additional clinical signs (e.g. gaze paresis and pyramidal signs, which characterize multisystem atrophy (MSA)) are overlooked (Fahn, 1989 Hughles et al., 1992). 

The clinical picture of deficiencies in glucose utilization can be subdivided into groups in which myopathy is the predominant manifestation or in which brain dysfunction predominates (cerebellar ataxia, pyramidal signs and dementia). In this review, however, we focus on the role of putative defects in energy metabolism as a possible factor in neurodegenerative diseases. 

Pyramidal signs were present in most patients (see Table 3a) regardless of current thyroid status (see Table 3b). Brisk reflexes and increased tone in the proximal muscles of the lower limbs were the most striking findings. The pyramidal signs were asymmetrical in nearly one third of patients. 

Myoclonic, intractable) seizures (Progressive) peripheral neuropathy Pyramidal signs/paraspasm/cerebral palsy Speech retardation Myopathy and/or cardiomyopathy Congenital cerebral malformations Fluctuating multisystemic disease Failure to thrive... 

Immunity decreased response to varicella immunization Neurological pyramidal signs in absence of decerebration (C. Dionisi-Vici, personal communication)... 

Pyramidal signs/spasticity Hypotonia Ophthalmopleg ia/st rab ismus + +... 

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