the hereditary ataxias are a group of genetically defined neurological diseases which are characterized by heterogeneous clinical presentations. ataxia is defined as imbalance and lack of coordination. mental retardation associated with ataxia has been reported in some of the known and recently identified syndromes. in this review, we describe some known and novel genes that cause familial ment...

Ataxia can be classified according to the onset into episodic, acute, intermittent and chronic ataxia. Acute ataxia in children is caused by CNS tumors, trauma, CNS infection, toxins, metabolic causes or stroke. Recurrent ataxia can be due to metabolic causes, seizures, basilar artery migraine or toxins. Chronic ataxia is usually the result of hereditary ataxia, CNS tumors, congenital anomalies...

Abstract Background Erdheim–Chester disease (ECD) is a rarely encountered idiopathic systemic form of non-Langerhans cell histiocytosis. The clinical manifestations ECD are highly heterogeneous, ranging from unifocal forms to life-threatening multisystem involvement. Patients with CNS involvement often do not show remission. Case presentation We present case 60-year-old male patient worsening c...

Friedreic’s Ataxia is a disease characterized by modification of the FRDA gene on chromosome 9q13. Affection this protein induces altered expression frataxin. When altered, molecular changes and cell death arise due to iron accumulation in mitochondria elevation reactive oxygen species. The damage occurs mostly neurons, causing neuronal impairment; however, alterations also occur heart, cardiac...

Background It is understood that toe walking involves the absence or limitation of heel strike in the contact phase of the gait cycle. When there is no medical cause of the gait pattern, a diagnosis of idiopathic toe walking (ITW) is made. Although there has been limited research into the pathophysiology of ITW, there has been an increasing number of references proposing that this gait pattern ...

BACKGROUND Assessment of children treated nonoperatively for idiopathic clubfoot, has primarily focused on the kinematic and kinetic results measured with gait analysis (GA). Excellent results in ankle motion and push-off power during gait have been reported at age 5; however, the assessment of gross motor function, has not been evaluated. The purpose of this study was to look at the relationsh...

Abstract Introduction: Spinocerebellar ataxia 3 (SCA3) is a hereditary disease associated with progressive cerebellar and extracerebellar degeneration. Although there no effective therapy for SCA3, some of its symptoms can be relieved symptomatic treatment. Identifying the presence this signs in patients may contribute to their clinical management thus improve quality life. Objective: To identi...

A case of juxtafoveolar telangiectasia complicated by lamellar, retinal hole is reported and the pathogenesis discussed. This association is not commonly recognised.

Hip rotation in extension and flexion was studied in 23 patients with idiopathic intoeing gait. In extension all the hips had markedly increased medial rotation and limited lateral rotation, fulfilling the criteria of excessive femoral anteversion. In flexion, however, rotation varied widely; in one group of patients medial rotation remained greater than lateral, but in the second group lateral...

Gold quantum clusters are therapeutic in preclinical models of Friedreich ataxia.