Possible Causes for Pyramidal Signs Creutzfeldt Jakob Disease Cognitive impairment, ataxia, myoclonus and pyramidal signs become very common in more advanced stages of the disease. [dx.doi.org] With disease progression, dementia was observed in all patients, and myoclonus and pyramidal signs affected the majority of the patients. [dx.doi.org] Myoclonus and pyramidal signs eventually appear. EEG shows slowing but not PSW complexes. The 14-3-3 tests were positive in the three cases examined 34. [dx.doi.org] Gaucher Disease Patient with types II (acute neuronopathic [ 230900 ]) and III (subacute neuronopathic [ 231000 ]) are more likely to have neurologic disease with bulbar and pyramidal signs [disorders.eyes.arizona.edu] Gaucher Disease Type 2 signs. [ncbi.nlm.nih.gov] […] type II is characterized by severe developmental delay, cachexia, seizures, horizontal gaze palsy, spasticity, neck retroflexion, opisthotonus, cortical thumbs, and other pyramidal [ncbi.nlm.nih.gov] Pallidopyramidal Syndrome Overview A rare disorder characterized by pyramidal signs and parkinsonism caused by a degeneration of the pyramidal tract and the part of the brain called the pallidum. [checkorphan.org] BACKGROUND:: The combination of early-onset, progressive parkinsonism with pyramidal tract signs has been known as pallido-pyramidal or parkinsonian-pyramidal syndrome since [moh-it.pure.elsevier.com] Abstract Background: The combination of early-onset, progressive parkinsonism with pyramidal tract signs has been known as pallido-pyramidal or parkinsonian-pyramidal syndrome [n.neurology.org] Pyramidal Tract Lesion Babinski sign in absence of Pyramidal Tract Lesion can occur in physiological and pathological conditions Physiological causes of Babinski sign in absence of Pyramidal Tract [notes.medicosnotes.com] Lower motor neuron signs are pyramidal not extrapyramidal. [forums.studentdoctor.net] His neurological examination showed bilateral pyramidal signs. [em-consulte.com] Machado-Joseph Disease The patient presented all the characteristic features of the disease which consist of progressive cerebellar ataxia, pyramidal signs, progressive external ophthalmoplegia [ncbi.nlm.nih.gov] signs, extrapyramidal signs, and peripheral neuropathy. [ncbi.nlm.nih.gov] This patient had a 4-year medical history mainly presenting severe ataxia, abnormal eye movement and pyramidal signs. [ncbi.nlm.nih.gov] Autosomal Recessive Spinocerebellar Ataxia 8 signs, and peripheral neuropathy can also be seen. [mdsabstracts.org] […] pigmentary maculopathy 7 III pure cerebellar ± Mild pyramidal signs 5,6,8,11,14,15,22 Ataxia and epilepsy 10 Early onset with mental retardation 13 25. [slideshare.net] In addition, pigmentary retinopathy, extrapyramidal movement disorders (parkinsonism, dyskinesias, dystonia, chorea), pyramidal signs, cortical symptoms (seizures, cognitive [emedicine.medscape.com] Cerebrotendinous Xanthomatosis signs (spasticity, hyperreflexia, extensor plantar responses) Cerebellar signs (ataxia, dysarthria) Movement disorder (parkinsonism, dystonia, myoclonus, postural tremor) [ncbi.nlm.nih.gov] Pyramidal (spasticity and hyperreflexia) and cerebellar signs (progressive ataxia and dysarthria) are frequent. [ncbi.nlm.nih.gov] signs (spasticity, hyperreflexia, extensor plantar responses); cerebellar signs (progressive ataxia, dysarthria); movement disorder (parkinsonism, dystonia, myoclonus, postural [ncbi.nlm.nih.gov] Spinocerebellar Ataxia Type 10 In addition to pure cerebellar ataxia and seizures, patients often showed soft pyramidal signs, ocular dyskinesia, cognitive impairment, and/or behavioral disturbances. [ncbi.nlm.nih.gov] It was initially described in Mexican families presenting with ataxia and epilepsy, with or without polyneuropathy, pyramidal signs and cognitive symptoms. [ncbi.nlm.nih.gov] Recent identification of new SCA10 families revealed more diverse phenotypes, including polyneuropathy, pyramidal signs, cognitive and neuropsychiatric impairment. [ncbi.nlm.nih.gov] Autosomal Dominant Spastic Ataxia Type 1 SCA4 (autosomal dominant type 4) 16q22.1 Ataxia with normal eye movements, sensory axonal neuropathy, and pyramidal signs SCA5 (autosomal dominant type 5) Also called Lincoln [bcm.edu] SCA3 type 1 (MJD Type 1, see this term) is associated with ataxia, ophthalmoparesis, pyramidal signs such as spasticity and hyperreflexia, and extrapyramidal signs including [orpha.net] […] pigmentary maculopathy 7 III pure cerebellar ± Mild pyramidal signs 5,6,8,11,14,15,22 Ataxia and epilepsy 10 Early onset with mental retardation 13 25. [slideshare.net] Superficial Siderosis of the Central Nervous System Progressive sensorineural deafness, cerebellar ataxia, and pyramidal signs comprise the typical clinical presentation. [ncbi.nlm.nih.gov] signs, and neuroimaging findings revealing hemosiderin deposits in the spinal and cranial leptomeninges and subpial layer. [orpha.net] It is a distinct clinical syndrome characterized by sensorineural deafness (95%), cerebellar ataxia (88%) and pyramidal signs (76%). [ncbi.nlm.nih.gov] Adult-Onset Autosomal Recessive Cerebellar Ataxia In addition, pigmentary retinopathy, extrapyramidal movement disorders (parkinsonism, dyskinesias, dystonia, chorea), pyramidal signs, cortical symptoms (seizures, cognitive [emedicine.medscape.com] Extracerebellar signs and related diseases: 3,4 Orthostatic hypotension, dysphonia, dystonia, pyramidal signs, and parkinsonism: MSA-C (the most common non-genetic degenerative [practicalneurology.com] Prominent progressive cerebellar ataxia, which occurs before dementia and onset of pyramidal signs. [neuroweb.us] Early-Onset Cerebellar Ataxia This is associated with dysarthria, pyramidal signs in the limbs, normal or increased knee jerks and upper limb reflexes and in some instances sensory loss. [ncbi.nlm.nih.gov] This disorder is associated with dysarthria, pyramidal signs in the limbs, and in some instances, sensory loss. [ncbi.nlm.nih.gov] Spastic Ataxia with Congenital Miosis Systemic Features: Ataxia in gait and limb motion with pyramidal signs is part of this disorder. [disorders.eyes.arizona.edu] In addition, pigmentary retinopathy, extrapyramidal movement disorders (parkinsonism, dyskinesias, dystonia, chorea), pyramidal signs, cortical symptoms (seizures, cognitive [emedicine.medscape.com] sign Hyporeflexia Slow progression Frequent falls Limb ataxia Spastic ataxia Babinski sign Skeletal muscle atrophy Tremor Aplasia/Hypoplasia of the cerebellum Peripheral [mendelian.co] Behr Syndrome signs. [malacards.org] signs (Behr syndrome; OMIM #210000). [ncbi.nlm.nih.gov] Behr syndrome, first described in 1909 by the ophthalmologist Carl Behr, is a clinical entity characterised by a progressive optic atrophy, ataxia, pyramidal signs and mental [ncbi.nlm.nih.gov] Autosomal Recessive Spinocerebellar Ataxia In addition, pigmentary retinopathy, extrapyramidal movement disorders (parkinsonism, dyskinesias, dystonia, chorea), pyramidal signs, cortical symptoms (seizures, cognitive [emedicine.medscape.com] Extracerebellar signs and related diseases: 3,4 Orthostatic hypotension, dysphonia, dystonia, pyramidal signs, and parkinsonism: MSA-C (the most common non-genetic degenerative [practicalneurology.com] The severity of clinical symptoms (cerebellar ataxia, pyramidal signs, and deep sensory loss) varied from mild to severe. [jmg.bmj.com] Autosomal Recessive Spinocerebellar Ataxia 18 […] pigmentary maculopathy 7 III pure cerebellar ± Mild pyramidal signs 5,6,8,11,14,15,22 Ataxia and epilepsy 10 Early onset with mental retardation 13 25. [slideshare.net] The severity of clinical symptoms (cerebellar ataxia, pyramidal signs, and deep sensory loss) varied from mild to severe. [jmg.bmj.com] The patient showed the classic triad of early childhood-onset cerebellar ataxia, peripheral neuropathy and pyramidal tract signs such as spasticity, abnormal reflexes and [e-jmd.org] Autosomal Recessive Spastic Paraplegia Type 63 In some cases of late-onset ARSACS, pyramidal signs are less severe and patients display hearing loss. [elsevier.es] This explains why the spasticity and pyramidal signs are often limited to the lower limbs in patients. [psychology.wikia.com] Neurological symptoms usually appear late in the second decade of life, and comprise epilepsy, ataxia, pyramidal signs, and polyneuropathy. [elsevier.es] Autosomal Recessive Spastic Paraplegia Type 7 Clinical features of the disease include lower limb spasticity and weakness, spastic ataxic gait, hyperreflexia, extensor plantar responses, pyramidal signs, decreased vibratory [link.springer.com] In some cases of late-onset ARSACS, pyramidal signs are less severe and patients display hearing loss. [elsevier.es] Clinical features include muscle atrophy and weakness with spasticity (more pronounced in the lower limbs), ataxia, pyramidal signs, dysphagia, and cerebellar dysarthria. [disorders.eyes.arizona.edu] 2-Hydroxyglutaric Aciduria Clinically this disorder is characterized by childhood onset, pyramidal signs, cerebellar and pseudobulbar syndromes and epilepsy. [ncbi.nlm.nih.gov] Cerebellar and pyramidal signs with progressive neurological syndromes, mental deterioration, tremors, seizures, epilepsy and rarely macrocephaly are clinical findings of [ncbi.nlm.nih.gov] The disorder was characterized by a progressive neurological syndrome with cerebellar and pyramidal signs, mental deterioration, epilepsy and subcortical leukoencephalopathy [ncbi.nlm.nih.gov] Pyramidal Tract Disorder signs, Pyramidal tract", author = "K. [keio.pure.elsevier.com] Lower motor neuron signs are pyramidal not extrapyramidal. [forums.studentdoctor.net] sign and a significant prolongation of the CMCT. [jnnp.bmj.com] Autosomal Recessive Spinocerebellar Ataxia Type 17 […] pigmentary maculopathy 7 III pure cerebellar ± Mild pyramidal signs 5,6,8,11,14,15,22 Ataxia and epilepsy 10 Early onset with mental retardation 13 25. [slideshare.net] In addition, pigmentary retinopathy, extrapyramidal movement disorders (parkinsonism, dyskinesias, dystonia, chorea), pyramidal signs, cortical symptoms (seizures, cognitive [emedicine.medscape.com] The patient showed the classic triad of early childhood-onset cerebellar ataxia, peripheral neuropathy and pyramidal tract signs such as spasticity, abnormal reflexes and [e-jmd.org] Mitochondrial Membrane Protein-Associated Neurodegeneration Key clinical features are pyramidal and extrapyramidal signs, cognitive decline, neuropsychiatric abnormalities, optic atrophy, and motor axonal neuropathy. [push-zb.helmholtz-muenchen.de] Early upper motor neuron signs (pyramidal signs, e.g. spasticity) are constant findings and are later followed by signs of lower motor neuron dysfunction (deep tendon reflex [malacards.org] signs. [2] Here, we report the clinical manifestations and genetic study results of a Turkish patient with MPAN. [pediatricneurosciences.com] Cerebellar Ataxia with Peripheral Neuropathy Type 2 The lack of pyramidal signs in most patients may be explained by masking due to severe motor neuropathy. [lib.ugent.be] In addition, pigmentary retinopathy, extrapyramidal movement disorders (parkinsonism, dyskinesias, dystonia, chorea), pyramidal signs, cortical symptoms (seizures, cognitive [emedicine.medscape.com] The gait is progressively ataxic with pyramidal signs. [medexam.net] Autosomal Recessive Spastic Paraplegia Type 61 Signs, Spastic paraplegia with hypertrophic sensory-motor neuropathy, type V, HMSN V, Type V Hereditary Motor and Sensory Neuropathy, Hereditary sensory-motor neuropathy, [ebi.ac.uk] Clinically affected subjects presented with increased reflexes in the lower compared with upper limbs plus at least one pyramidal sign; apart from pyramidal signs, most patients [jnnp.bmj.com] […] tract signs and ataxia seen in the pure phenotype of spastic paraplegia. [neurologyindia.com] Amyotrophic Lateral Sclerosis Type 4 signs, normal sensation, and absence of bulbar involvement, leading to degeneration of motor neurons in the brain and spinal cord. [orpha.net] Affected individuals suffer from a slowly progressive distal neuropathy and present pyramidal signs. [symptoma.com] […] genetic motor neuron disease characterized by late childhood- or adolescent-onset of slowly progressive, severe, distal limb muscle weakness and wasting, in association with pyramidal [orpha.net] Autosomal Recessive Spastic Paraplegia Type 44 […] of symmetrical pyramidal tract involvement. [squ.pure.elsevier.com] This explains why the spasticity and pyramidal signs are often limited to the lower limbs in patients. [psychology.wikia.com] signs and eventually spastic paraparesis which is compatible with PMLD. [ijmr.org.in] Spinocerebellar Ataxia with Axonal Neuropathy Neither pyramidal and extrapyramidal signs nor mental retardation was detected. Brain MRI showed moderate pancerebellar atrophy. [karger.com] […] pigmentary maculopathy 7 III pure cerebellar ± Mild pyramidal signs 5,6,8,11,14,15,22 Ataxia and epilepsy 10 Early onset with mental retardation 13 25. [slideshare.net] In addition, pigmentary retinopathy, extrapyramidal movement disorders (parkinsonism, dyskinesias, dystonia, chorea), pyramidal signs, cortical symptoms (seizures, cognitive [emedicine.medscape.com] Infantile-Onset Autosomal Recessive Non-Progressive Cerebellar Ataxia SCA4 (autosomal dominant type 4) 16q22.1 Ataxia with normal eye movements, sensory axonal neuropathy, and pyramidal signs SCA5 (autosomal dominant type 5) Also called Lincoln [bcm.edu] In addition, pigmentary retinopathy, extrapyramidal movement disorders (parkinsonism, dyskinesias, dystonia, chorea), pyramidal signs, cortical symptoms (seizures, cognitive [emedicine.medscape.com] […] onset, cerebellar vermis atrophy, thinning of optic nerve [ 90 ] SCAR22 (1 family) VWA3B 616948 Cognitive impairment, pyramidal signs, adult onset, cerebellar atrophy and [cerebellumandataxias.biomedcentral.com] Distal Spinal Muscular Atrophy Type 4 sign No No Bulbar symptom No No Cranial neuropathy No No Foot deformity Yes Yes Scoliosis No Yes Respiratory dysfunction No Yes (60%) Wheelchair bound No Yes (80%) Nerve [ojrd.biomedcentral.com] signs and (4) Silver syndrome with atrophy of the intrinsic hand muscles, pyramidal signs and lower limb spasticity. 14 The upper limb-onset phenotype (dHMN V) may also result [jnnp.bmj.com] Reflexes, vibration, and position sense are imparired -Main autosomal dominant ataxias -Commonly present with neuropathy, pyramidal signs, ataxia, and restless leg syndrome [quizlet.com]
