POLR3A-related spastic ataxia: new mutations and a look into the clinical and MRI phenotype
Objective: To report the clinical, molecular and magnetic resonance imaging features of eight patients with POLR3A-realted spastic ataxia. Background: POLR3-related disorders comprise a number of…Cardiac involvement in AVED
Objective: Case report Background: Ataxia with vitamin E deficiency (AVED) is an autosomal recessive disorder caused by mutations in the gene encoding the α-tocopherol transport…Think of Gluten Ataxia:A rare but potentially reversible cause of progressive neurological disorder
Objective: To explore an unusual cause of ataxia in a patient with known Celiac disease. Background: Celiac disease is the established but not the only…Paraneoplastic Cerebellar Degeneration As Initial Symptom Of Renal Cell Carcinoma
Objective: To describe a case of paraneoplastic cerebellar degeneration in a patient with renal cell carcinoma. Background: Paraneoplastic cerebellar degeneration belongs to a group of…Another mitochondrial disease mimic: Two Case reports of adult riboflavin transporter deficiency (RTD) type 2 with muscle adenosine monophosphate (AMP) deaminase deficiency
Objective: To present two rare cases of RTD type 2 with co-existing AMP deaminase deficiency. Background: RTD, formerly known as Brown-Vialetto-Van Laere syndrome, is a…The First Chinese Case of Fragile X-associated Tremor/ Ataxia Syndrome :an underestimated disease in China
Objective: To report the first case of FXTAS from mainland of China and review the literature to find out why is FXTAS an underestimated disease in…Recurrent Ataxia in a Young Lady with Hashimoto’s Thyroiditis
Objective: To present a case with recurrent attacks of ataxia in a young lady with Hashimoto's Thyroidits. Background: Hashimoto’s thyroiditis is now considered the most…Ocular flutter, generalized myoclonus and ataxia syndrome associated with Human Immunodeficiency Virus: A case report
Objective: Postinfectious ocular flutter and truncal ataxia have been described after infections with enterovirus, cytomegalovirus and human immunodeficiency virus (HIV). We report a patient with…Cerebellar Ataxia as a Manifestation of Hashimoto Encephalopathy
Objective: To characterize the clinical, laboratory and radiologic findings as well as prognosis of Hashimoto encephalopathy (HE) presenting with cerebellar ataxia Background: HE is a…Ataxia and cerebellar atrophy in Charcot-Marie-Tooth neuropathy type 4C
Objective: To evaluate for the presence of ataxia and cerebellar atrophy in a cohort of Charcot-Marie-Tooth neuropathy type 4C (CMT4C) patients. Two of these patients…
- « Previous Page
- 1
- …
- 5
- 6
- 7
- 8
- 9
- 10
- Next Page »