Stiff Person Syndrome With Positive Anti-glutamic Acid Decarboxylase (GAD) Autoantibodies.

Stiff person syndrome (SPS) is a progressive autoimmune disorder characterized by muscle rigidity, frequent falls, and spasms, affecting primarily women. Recent advances have linked SPS to specific antibodies, such as anti-glutamic acid decarboxylase (GAD)-65, but effective treatments remain elusive. We report the case of a 53-year-old female who developed chronic lower back pain, tingling paresthesias, and progressive rigidity in the lower limbs.

p.Glu61Ter mutation in GCH1 in a Moroccan patient with dopa-responsive dystonia: a case report.

Dopa-responsive dystonia (DRD) is a hereditary movement disorder due to a selective nigrostriatal dopamine deficiency. It is characterized by onset in childhood or adolescence with marked diurnal fluctuation with or without Parkinsonian features, and is caused by mutations in GCH1 gene. We report in this study the clinical and genetic features of the first DRD Moroccan patient.

[Moderate bilateral carpal tunnel syndrome improved by median nerve neurodynamic mobilization: a case report].

Carpal tunnel syndrome is the most common neuropathy affecting the upper limb. Several therapeutic approaches are used to treat this syndrome, including conservative treatment, often used as the first line treatment. We here report the case of a 61-year-old female patient, presenting to the Department of Clinical Neurophysiology of the Specialty Hospital, Rabat, with moderate and bilateral carpal tunnel syndrome with sensory loss confirmed by electroneuromyography (ENMG).

The effectiveness of the median nerve neurodynamic mobilisation techniques in women with mild or moderate bilateral carpal tunnel syndrome: A single-blind clinical randomised trial.

Background: Carpal tunnel syndrome (CTS) is the most prevalent upper limb compression neuropathy. Surgical or nonsurgical treatment is recommended. Both mild and moderate CTS can be managed conservatively.

The validity of the upper limb neurodynamic test 2A in women with a clinical diagnosis of carpal tunnel syndrome: a prospective diagnostic accuracy study.

Introduction: the validity of the upper limb neurodynamic tests and especially the upper limb neurodynamic test 1 for diagnosing carpal tunnel syndrome has been the subject of several previous studies. However, the upper limb neurodynamic test 2A, which is also a test designated to assess the mechanosensitivity of the median nerve, has not been sufficiently studied, particularly for the diagnosis of carpal tunnel syndrome.

Methods: we used the upper limb neurodynamic test 2A as the index test and nerve conduction studies as the reference standard.

Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia.

Hereditary spastic paraplegia (HSP) is a genetically and clinically heterogeneous disease characterized by spasticity and weakness of the lower limbs with or without additional neurological symptoms. Although more than 70 genes and genetic loci have been implicated in HSP, many families remain genetically undiagnosed, suggesting that other genetic causes of HSP are still to be identified. HSP can be inherited in an autosomal-dominant, autosomal-recessive, or X-linked manner.

Clinical and genetic data of Huntington disease in Moroccan patients.

Background: Huntington's disease (HD) occurs worldwide with prevalence varying from 0.1 to 10/100,000 depending of the ethnic origin. Since no data is available in the Maghreb population, the aim of this study is to describe clinical and genetic characteristics of Huntington patients of Moroccan origin.

[Review of the recent literature on hereditary neuropathies].

The recent literature included interesting reports on the pathogenic mechanisms of hereditary neuropathies. The axonal traffic and its abnormalities in some forms of Charcot-Marie-Tooth (CMT) disease were particularly reviewed by Bucci et al. Many genes related to CMT disease code for proteins that are involved directly or not in intracellular traffic.

Juvenile-onset permanent weakness in muscle phosphofructokinase deficiency.

We describe a 41-year-old Moroccan woman with phosphofructokinase (PFK) deficiency who presented slowly progressive muscular weakness since childhood, without rhabdomyolysis episode or hemolytic anemia. Deltoid biopsy revealed massive glycogen storage in the majority of muscle fibers and polysaccharide deposits. PFK activity in muscle was totally absent.

[Charcot-Marie-Tooth disease].

Charcot-Marie-Tooth (CMT) disease, also known as peroneal muscular atrophy or hereditary motor and sensory neuropathy, is among the most frequent hereditary disorders of the nervous system. The relatively homogeneous clinical phenotype involves mainly progressive weakness and wasting of distal muscles; it starts and predominates in the peroneal muscles. Electrophysiological and pathology data distinguish two principal forms of CMT: demyelinating and axonal.

[Amyloid neuropathy resulting from an unknown protein].

Amyloid neuropathy is related to acquired or hereditary forms of amyloidosis resulting from transthyretin variants. We reported a 42-year-old man suffering from a peripheral neuropathy not related to transthyretin mutations. Mass spectrometry may be useful to identify this rare form of amyloid neuropathy.

A novel GDAP1 mutation P78L responsible for CMT4A disease in three Moroccan families.

Background: The gene encoding the ganglioside-induced-differentiation-associated protein 1 (GDAP1) has been associated with both axonal and demyelinating neuropathy. Up to date, 25 mutations in the GDAP1 gene have been reported in patients from different origins.

Methods: Three Moroccan families with early onset ARCMT1 and autosomal recessive inheritance were genotyped to test linkage to 8q21.

Refinement of the SPG15 candidate interval and phenotypic heterogeneity in three large Arab families.

Hereditary spastic paraplegia (HSP) type 15 is an autosomal recessive (AR) form of complicated HSP mainly characterized by slowly progressive spastic paraplegia, mental retardation, intellectual deterioration, maculopathy, distal amyotrophy, and mild cerebellar signs that has been associated with the Kjellin syndrome. The locus for this form of HSP, designated SPG15, was mapped to an interval of 19 cM on chromosome 14q22-q24 in two Irish families. We performed a clinical-genetic study of this form of HSP on 147 individuals (64 of whom were affected) from 20 families with AR-HSP.

[T-cell lymphoma revealed by a mononeuritis multiplex: case report and review of literature].

Introduction: Lymphoma occasionally affects the peripheral nervous system. Neuropathy usually appears in patients with known lymphoma but rarely represents the initial manifestation of underlying malignancy. We report a case in which mononeuritis multiplex (MM) was the dominant feature in the clinical presentation of a peripheral T-cell non-Hodgkin lymphoma (NHL).

Autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2): phenotype-genotype correlations in 13 Moroccan families.

Charcot-Marie-Tooth disease is a genetically heterogeneous group of hereditary motor and sensory neuropathies. Three loci for the axonal autosomal recessive subgroup (ARCMT2) have been reported in 1q21 (CMT2B1, LMNA), 8q21 (CMT4A and CMT2K, GDAP1) and 19q13 (CMT2B2). We report here a clinical, electrophysiological, pathological and genetic study in 13 Moroccan families with ARCMT2 phenotypes.

[Pseudoainhum and peripheral neuropathy].

Background: Pseudoainhum is a rare disease characterised by gradual fibrous constriction of the fingers and/or toes eventually resulting in their amputation. In this article, we report the first case seen in Morocco, highly unusual in terms of its severity.

Case Report: A 46-year-old woman with no toxic habits was hospitalised for spontaneous amputation of the fingers and toes.

Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations.

Background: Charcot-Marie-Tooth (CMT) disease is a heterogeneous group of inherited peripheral motor and sensory neuropathies with several modes of inheritance: autosomal dominant, X-linked, and autosomal recessive (AR) CMT. A locus responsible for the demyelinating form of ARCMT was assigned to the 5q23-q33 region (CMT4C) by homozygosity mapping. Recently, 11 mutations were identified in the SH3TC2 (KIAA1985) gene in 12 families with demyelinating ARCMT from Turkish, Iranian, Greek, Italian, or German origin.

Autosomal-recessive forms of demyelinating Charcot-Marie-Tooth disease.

Autosomal-recessive forms of Charcot-Marie-Tooth (ARCMT) account for less than 10% of the families in the European CMT population but are more frequent in the Mediterranean basin and the Middle East because of more widespread consanguinity. Until now, demyelinating ARCMT was more extensively studied at the genetic level than the axonal form. Since 1999, the number of localized or identified genes responsible for demyelinating ARCMT has greatly increased.

[Autonomic profile of patients with migraine].

Object: Dysfunction of autonomic nervous system (ANS) is implicated in the genesis and persistence of migraine. The objective of this study was to compare autonomic nervous system (ANS) profile of migraineurs during headache-free periods to a group of normal subjects based on cardio-vascular reactivity.

Methods: Patients with migraine according to the criteria of IHS 2004 were selected for the study.

Vitamin E deficiency ataxia with (744 del A) mutation on alpha-TTP gene: genetic and clinical peculiarities in Moroccan patients.

Ataxia with vitamin E deficiency (AVED) is an autosomal recessive disease characterized clinically by neurological symptoms with often striking resemblance to those of Friedreich's ataxia (FA). Molecular analysis is needed for an early differential diagnosis, in order to initiate therapeutic vitamin E supplementation before damage develops. We studied 16 patients from seven Moroccan families presenting an autosomal recessive Friedreich-like ataxia with vitamin E deficiency.

High incidence of SMN1 gene deletion in Moroccan adult-onset spinal muscular atrophy patients.

Spinal muscular atrophy (SMA) is an autosomal recessive motor neuropathy characterized by selective degeneration of anterior horn cells of the spinal cord. Childhood SMA is divided into three types (I-III) on the basis of age of onset and severity. These disorders have been linked to the 5q13 region, where mutations in the Survival Motor Neuron 1 (SMN1) gene have been found in affected individuals.

Phenotypical features of a Moroccan family with autosomal recessive Charcot-Marie-Tooth disease associated with the S194X mutation in the GDAP1 gene.

Background: The first locus for demyelinating autosomal recessive Charcot-Marie-Tooth (ARCMT) disease was identified in 8q13, where mutations in GDAP1 have been found. Mutations in the same gene have been detected in families with axonal ARCMT disease.

Objective: To determine the clinical, electrophysiologic, and morphologic characteristics of a consanguineous Moroccan family with ARCMT disease associated with the S194X mutation in the GDAP1 gene.