Hereditary haemochromatosis (HH) is a genetic disorder in which abnormal iron handling leads to excessive iron accumulation in systemic tissues. Magnetic resonance imaging studies suggest excess iron deposition in the basal ganglia of patients with HH. The symptoms of neurological complications of HH include cognitive decline, gait difficulties, cerebellar ataxia, and extrapyramidal dysfunction...

A 67-year-old man presented with a several-year history of progressive gait ataxia, dysarthria, and a 2-Hz palatal tremor (video on theNeurology®Web site at Neurology. org). He did not have corticospinal tract signs. Cranial MRI revealed hypertrophic olivary degeneration on T2-weighted images (figure). Genetic testing revealed a transition C . T, nucleotide position 235, codon 79, resulting in ...

Marc W. Halterman, MD, PhD G. Edward Vates, MD, PhD Garrett Riggs, MD, PhD Idiopathic aqueductal stenosis (AS) may account for up to 59% of cases presenting with triventricular noncommunicating hydrocephalus.1 The clinical presentations associated with triventricular hydrocephalus differ depending on age at onset and the acuity of obstruction. Acute syndromes include Parinaud’s syndrome (vertic...

Ataxia is a common neurological syndrome resulting from cerebellar, vestibular or sensory disorders. The recognition and characterisation of sensory ataxia remains a challenge. Cerebellar ataxia is the more common and easier to identify; sensory ataxia is often mistaken for cerebellar ataxia, leading to diagnostic errors and delays. A coherent aetiological work-up is only possible if clinicians...

Idiopathic hypertrophic cranial pachymeningitis (IHCP) is a chronic fibrosing inflammatory condition of dura mater resulting in thickening of dura.1 It has a non specific clinical picture comprising headache, vomiting, cranial nerve palsy, ataxia, raised intracranial pressure and focal neurological deficit. These symptoms and signs in IHCP are due to entrapment of cranial nerves, occulsion of C...

Primary angiitis of the central nervous system (PACNS) is an idiopathic disorder (vasculitis) restricted to the central nervous system (CNS). It often presents with focal neurological deficits suggesting stroke or a combination of confusion and headache. We herein report three cases with various combinations of fever, partial seizure, encephalopathy, paresis, headache and ataxia. One of them wa...

and moderate ataxia. The cerebrospinal fluid (CSF) analysis revealed a mild pleocytosis (17/3 mononuclear cells), a dysfunction of the blood brain barrier and oligoclonal bands without corresponding findings in the serum. The MRI on the day of admission showed large, partly confluent lesions with perifocal edema, T1-hypo-intensity as a correlate of severe tissue damage as well as concentric gad...

Idiopathic hypertrophic pachymeningitis (IHP) is a very infrequent disorder that causes a localized or diffuse thickening of the dura mater. The main clinical features of IHP at presentation include headache, cranial nerve involvement, ataxia, transient ischemic attacks (TIA) and seizures. Intracranial hypotension (ICH) and distension of anterior internal vertebral venous plexus (IVVP) have not...

INTRODUCTION Sensory chronic inflammatory demyelinating polyneuropathy (CIDP) can be difficult to diagnose. METHODS We report 22 patients with chronic sensory polyneuropathy with ≥1 clinical sign atypical for chronic idiopathic axonal polyneuropathy (CIAP) but no electrodiagnostic criteria for CIDP. RESULTS Clinical signs atypical for CIAP were: sensory ataxia (59%), generalized areflexia (...

Transcranial sonography is a highly sensitive noninvasive sonographic method for detection of early and specific echogenic changes in basal ganglia of patients with some neurodegenerative diseases. Transcranial sonography showed substantia nigra hyperechogenicity as a typical echo feature in idiopathic Parkinson disease and lenticular nucleus hyperechogenicity as a characteristic finding in aty...