An Age-Related Morphometric Profile of Skeletal Muscle in Healthy Untrained Women.

There is a paucity of data on muscle biopsies in females of mixed ages in terms of age-related changes. Cross sections of autopsy material including the quadriceps femoris and biceps brachii muscles were obtained from 23 healthy women, aged 24-82 years, who had suffered sudden death. We calculated the percentage of the number, and the mean diameter, of type I and type II muscle fibers within the fascicles as well as in their peripheral parts.

A selective memory deficit caused by autoimmune encephalopathy associated with Hashimoto thyroiditis.

We report a longstanding selective memory deficit in a euthyroid 45-year-old woman who was being treated with levothyroxine for Hashimoto thyroiditis. The patient had complained of memory problems and deterioration of her concentration skills for about 2 years. Her endocrinologist thought that she was depressed.

Co-segregation of Huntington disease and hereditary spastic paraplegia in 4 generations.

Introduction: Huntington disease (HD) is an autosomal dominant neurodegenerative disease characterized by choreic hyperkinesias, cognitive decline, and psychiatric manifestations, caused by an increased number of CAG repeats in the IT15 gene on chromosome 4p16.3. Silver syndrome is a rare autosomal dominant form of complicated hereditary spastic paraplegia, characterized by lower limb spasticity in addition to amyotrophy of the small muscles of the hands.

Toward understanding cognitive impairment in patients with myotonic dystrophy type 1.

Cognitive dysfunction and sleep disruption are two frequent but underestimated features of adult onset myotonic dystrophy type 1 (MD1). In order to investigate the MD1 cognitive profile and its relationship with sleep disruption, 23 patients with genetically proved MD1 (mild-moderate in severity) underwent neuropsychological (nps) and polysomnography assessment. Patients scored lower than controls on almost all nps tests but cognitive impairments were mostly observed in executive functions (z-score = -2.

Age-related morphometric characteristics of human skeletal muscle in male subjects.

Objective: The purpose of the present study is to investigate the age-related changes in muscle biopsies from the quadriceps femoris in male subjects of different ages.

Methods: A histological and histochemical study was performed on specimens from the quadriceps femoris from 8 males divided into two groups, under 50 and over 70 years of age. The following measurements were performed: a) number of type 1 and 2 fibres, b) diameter of type 1 and 2 fibres, c) percentage of the number and mean diameter of the two types in the interior and the peripheral area of fascicles.

Concommitant appearance of glioblastoma multiforme and neurocysticercosis in a nonendemic country: a case report.

Neurocysticercosis (NC) is the most frequent and widespread human neuroparasitosis. Glioblastoma multiforme, a not infrequent brain neoplasm in young adults, may have a similar clinical and radiologic presentation as NC. Coexistence of NC and brain tumors has been very rarely reported and puts into question a causal relationship between the 2 diseases.

Spinal cavernoma: an unusual cause of acute monoparesis.

Introduction: Cavernous hemangiomas or cavernomas are uncommon vascular malformations of the central nervous system involving most commonly the cerebral hemispheres where they are detected in young to middle aged adults. We present an unusual case of acute monoparesis caused by an intramedullary cavernoma in a woman of advanced age.

Case Report: A 67-year-old woman presented with walking difficulties with acute onset 2 months previously.

Severe dopaminergic pathways damage in a case of chronic toluene abuse.

Introduction: Toluene toxicity primarily affects central nervous system white matter, causing a characteristic brain MRI pattern.

Case Report: A toluene addicted man, after an abstinence period and a treatment with neuroleptics, presented with severe worsening of preexisting generalized tremor, opsoclonus, dysarthria, gait inability, jerky tendon reflexes and behaviour disorders. Magnetic resonance imaging showed mild leukoencephalopathy and hypointensities in deep gray matter nuclei.

Frequency and causes of early-onset dementia in a tertiary referral center in Athens.

Objective: To investigate the frequency and causes of early-onset dementia (EOD) in consecutive patients in a highly specialized dementia referral center, focusing on unusual cases, particularly with early and/or rapid onset, in Athens, Greece.

Methods: Patients referred for dementia diagnosis according to specific referral criteria during a 3 years period. We examined the distribution of patients diagnosis and differences in sex, education, dementia severity, cognitive function, and the duration of disease (from onset to referral) between the EOD (<65 y) and the late-onset dementia (LOD) groups.

Rapidly progressive dementia: causes found in a Greek tertiary referral center in Athens.

Dementia is generally considered as rapidly progressive [rapidly progressive dementia (RPD)], in cases with overt cognitive impairment, established within months. Data about the relative frequency of underlying diseases in cases of RPD are few and extremely variable, depending on the clinical setting. We examined the relative frequency of the underlying causes of RPD, in a university tertiary referral center, in Athens.

Asymptomatic elevation of serum creatine kinase leading to the diagnosis of 4q35 facioscapulohumeral muscular dystrophy.

Persistent, asymptomatic (hyperCKemia) may be the prelude to, or the sole manifestation of, a neuromuscular disease. However, the clinical spectrum of facioscapulohumeral muscular dystrophy (FSHD) ranges from asymptomatic individuals with minimal clinical signs to patients who are wheelchair-bound. We describe a patient with persistent, asymptomatic hyperCKemia who received the diagnosis of 4q35 FSHD after a thorough stepwise investigation.

Dementia as presenting symptom of primary hyperparathyroidism: favourable outcome after surgery.

The case of a 76-year-old female patient is presented with a two-year history of progressive dementia, apathy and gait impairment. Initially, Alzheimer's disease was diagnosed and she was given donepezil for one year with no significant improvement. An extensive blood and biochemical control revealed high serum calcium and parathormone levels, and normal thyroid hormones and anti-thyroid antibodies.

Diagnostic value of CSF biomarker profile in frontotemporal lobar degeneration.

Background: Cerebrospinal fluid (CSF) biomarkers have been increasingly studied in dementia clinical and differential diagnosis.

Methods: We assessed levels of total tau protein (tauT), tau phosphorylated at threonine 181 (tau P-181), and beta-amyloid1-42 (A beta 42) in 34 patients with frontotemporal lobar degeneration (FTLD), 76 Alzheimer disease (AD) cases, and 93 controls (CTRL). Double sandwich enzyme-linked immunosorbent assays (Innogenetics) were used for measurements.

Square-wave jerks and smooth pursuit impairment as subtle early signs of brain involvement in Langerhans' cell histiocytosis.

Central nervous system (CNS) involvement in Langerhans' cell histiocytosis (LCH) has been described as a progressive neurological disorder marked by motor and cognitive decline. Detailed analysis of ocular motor abnormalities is lacking. We report on a 60-year-old male with histologically confirmed LCH who developed oscillopsia and gait ataxia over a 1-year period.

Low plasma total cholesterol in patients with Huntington's disease and first-degree relatives.

Recent studies indicate altered cholesterol homeostasis in Huntington's disease (HD) after it was found that cultured human and mice cells expressing mutant huntingtin show reduced mRNA of cholesterol biosynthetic enzymes. Plasma total cholesterol (TC) levels have been connected to degenerative disorders, but data for HD are lacking. We estimated plasma TC in three groups of HD related subjects: (a) patients with overt symptomatology, (b) subjects with expanded CAG repeat number in the Huntington gene before disease onset, and (c) siblings or descendants of HD patients, with normal CAG repeat number.

Spinal muscular atrophy: DNA fragmentation and immaturity of muscle fibers.

The presence of apoptotic fibers and the embryonic proteins desmin and vimentin were investigated in muscle biopsy specimens from patients with spinal muscular atrophy (SMA). Apoptosis was studied in 24 cases of SMA by means of in situ end labeling of nuclear DNA fragmentation using TUNEL staining and immunohistochemistry. Apoptotic nuclei were observed in 54.

Morphologic and morphometrical study of the muscle spindle in muscular dystrophy.

Objective: To determine the morphologic and the morphometrical features of spindles in biopsies of patients with different types of muscular dystrophy and investigate the possible involvement of the spindle in the pathologic process of these diseases.

Study Design: The following variables were studied in biopsy specimens from 10 patients with Duchenne or Becker dystrophy, 9 with limb-girdle dystrophy, 3 with congenital dystrophy and 3 with facioscapulohumeral dystrophy: diameter and area of spindle; thickness of the capsule; number, diameter and area of intrafusal fibers; and number and area of nuclei.

Results: The statistical evaluation of the data showed significant differences regarding the thickness of the capsule, which was greater in patients than in controls, while the diameter and the area of the fibers were all smaller in patients than in controls.