Expanding the Phenotypic Spectrum of SPG7 Rare Damaging Variants: Insights From a Hungarian Cohort.

Mitochondria-associated paraplegin dysfunction is primarily linked to spastic paraplegia; however, genetic alterations in SPG7 have been associated with a broader spectrum of clinical symptoms. To identify disease-causing variants in the SPG7 gene, 437 patients with spastic ataxia, mitochondrial dysfunction-associated symptoms, or motoneuron lesions detected by EMG have been tested. We aimed to assess the clinical spectrum and determine the frequency of damaging variants within patient groups, particularly those less studied.

The improvement of motor symptoms in Huntington's disease during cariprazine treatment.

Background: Huntington's disease (HD) is a progressive neurodegenerative disease, characterised by motor disturbances and non-motor (i.e., psychiatric) symptoms.

Early-Onset Schizophrenia With Predominantly Negative Symptoms: A Case Study of a Drug-Naive Female Patient Treated With Cariprazine.

Schizophrenia is a chronic and severe mental disorder characterized by positive, negative, and cognitive symptoms. Negative symptoms are usually present from the prodromal phase; early diagnosis and management of negative symptoms is a major health concern since an insidious onset dominated by negative symptoms is associated with a worse outcome. Antipsychotic medications, which are effective for treating positive symptoms, are generally ineffective for treating negative or cognitive symptoms.

[Examining the diagnostic accuracy of a new migraine screener].

Background: Migraine affects more than 10% of the Hungarian population, causes significant disability and severely affects patients' generic and condition-specific quality of life. Despite these facts, a significant proportion of patients is not diagnosed and not treated adequately. Headache centres can provide care for only a fraction of all patients.

The validation of a new comprehensive headache-specific quality of life questionnaire.

Background: Measuring quality of life (QOL) is an important means of assessing the impact of headache. The currently used QOL questionnaires are usually geared toward migraine and focus on a limited number of factors, thus they are not necessarily informative in other headache types. We report the psychometric properties of a new questionnaire, the Comprehensive Headache-related Quality of life Questionnaire (CHQQ) that may be more sensitive to the burden of headache.

[Examining the psychometric properties of a new quality of life questionnaire in migraineurs].

Background: The deleterious effect of primary headaches on the sufferers' quality of life (QOL) has been abundantly documented using both generic and headache-specific instruments. The currently used questionnaires focus on a limited number of factors and therefore may not be sensitive enough to detect the effect of headache type and headache characteristics on QOL, despite the obvious clinical differences. We have devised a comprehensive questionnaire that may be more sensitive to the burden of headache.

Cervical juxtafacet cyst combined with spinal dysraphism.

Juxtafacet cysts of the cervical and thoracic spine are rare and often cause radiculopathy or myelopathy. We present a case of a patient with radicular pain and early onset myelopathy. A juxtafacet cyst at the cervico-thoracic junction combined with discal herniation and spina bifida occulta was diagnosed with computed tomography (CT) and magnetic resonance imaging (MRI).

One-and-a-half syndrome--two cases.

One-and-a-half syndrome is characterized by combination of the clinical features of unilateral horizontal gaze palsy and internuclear ophthalmoplegia. The common symptoms are double vision and oscillopsia. The lesion is located in the paramedian pontine reticular formation, involving the centre of horizontal gaze and medial longitudinal fasciculus.