1-4 The key to assessment of acute ataxia in children is a thorough physical examination, which may reveal many possible associated findings and shed light on the location of the primary pathology. In this review, we present a broad differential diagnosis ranging from primary central causes to ...
A subarachnoid hemorrhage refers to bleeding immediately surrounding the brain in the area of the head called the subarachnoid space. The main symptom of a subarachnoid stroke is a sudden, severe headache, possibly following a popping or snapping feeling. Many factors can cause a subarachnoid stroke...
The term SCA refers to a phenotypically and genetically heterogeneous group of autosomal dominant spinocerebellar ataxias. Phenotypically they present as gait ataxia frequently in combination with dysarthria and oculomotor problems. Additional signs and symptoms are common and can include various pyramidal an...
Spinocerebellar ataxia autosomal recessive type 9: Spinocerebellar ataxia autosomal recessive type 9 (SCAR9), also known as autosomal recessive cerebellar ataxia type 2 (ARCA2) refers to ARCA associated with muscle coenzyme Q10 deficiency[49]. Homozygosity mapping (GeneChip Human Mapping 10K 2.0 Xba ...
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Ataxia telangiectasiamutated (ATM) is a member of the phosphatidylinositol-3 kinase-likeprotein kinase(PIKK) family, which are kinases that are activated inresponse to DNA damage(Shiloh, 2003; Savitsky et al., 1995). ATM is a well-known primary regulator of the cellular response to DNA double...
The ear is a sensory organ that enables the human body to perceive signals of sound and process these signals in the brain. The human ear also helps in maintaining the balance of the body. The visible portion of the ear is called the pinna. ...
Patient 1 is a boy that at age of 19 months was referred to the emergency department of Bambino Gesù Children’s Hospital for sudden onset of ataxia, dysmetria, loss of standing and sitting position, hypotonia, and upper limb tremor, following few days of fever. Diagnostic work-up include...
supraspinal structures. Although CAs rarely occur in isolation during the first attack (the reported incidence of CAs based on symptoms at presentation was about 15 %), they are common in established MS [2]. Based on the results of experimental allergic encephalomyelitis, the following cell-...
on animals to prove that there was no loss of consciousness and decreased voluntary movements following destruction of the cerebellum. He observed that partial removal of the median lobe of the cerebellum from a goat caused the animal to sway and fall to one side or the other (Rolando, 1809)...